{ "batchid": 9, "recordid": "P11217-1", "recordtype": "protein", "sections": { "snv": [ { "evidence": [ { "id": "rs1407678736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1407678736" }, { "id": "rs1407678736", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1407678736#frequency_tab" }, { "id": "rs1407678736", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1407678736" } ], "glycoeffect": [], "start_pos": 657, "end_pos": 657, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750583", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V657", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1174374786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1174374786" }, { "id": "rs1174374786", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1174374786#frequency_tab" }, { "id": "rs1174374786", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1174374786" } ], "glycoeffect": [], "start_pos": 657, "end_pos": 657, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64751325", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V657", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2496648766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2496648766" } ], "glycoeffect": [], "start_pos": 659, "end_pos": 659, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750578", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P659", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1208434944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208434944" }, { "id": "rs1208434944", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1208434944" } ], "glycoeffect": [], "start_pos": 65, "end_pos": 65, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64759705", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V65", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs149658961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149658961" }, { "id": "rs149658961", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149658961" }, { "id": "rs149658961", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149658961" }, { "id": "rs149658961", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149658961#frequency_tab" }, { "id": "rs149658961", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149658961" } ], "glycoeffect": [], "start_pos": 65, "end_pos": 65, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64759706", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V65", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs149658961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149658961" }, { "id": "rs149658961", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149658961" }, { "id": "rs149658961", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149658961" }, { "id": "rs149658961", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149658961#frequency_tab" }, { "id": "rs149658961", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149658961" }, { "id": "rs149658961", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149658961" } ], "glycoeffect": [], "start_pos": 65, "end_pos": 65, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64759706", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V65", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs2496648756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2496648756" } ], "glycoeffect": [], "start_pos": 660, "end_pos": 660, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750574", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A660", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1425743014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1425743014" }, { "id": "rs1425743014", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1425743014#frequency_tab" } ], "glycoeffect": [], "start_pos": 661, "end_pos": 661, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750572", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A661", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1344979389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1344979389" }, { "id": "rs1344979389", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1344979389" } ], "glycoeffect": [], "start_pos": 661, "end_pos": 661, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750571", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A661", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [], "start_pos": 662, "end_pos": 662, "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "Y", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750569", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D662", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1301319669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1301319669" }, { "id": "rs1301319669", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1301319669#frequency_tab" }, { "id": "rs1301319669", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1301319669" } ], "glycoeffect": [], "start_pos": 663, "end_pos": 663, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750566", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L663", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 664, "end_pos": 664, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "C", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750562", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S664", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs773633182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773633182" }, { "id": "rs773633182", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773633182" }, { "id": "rs773633182", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773633182" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 664, "end_pos": 664, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750562", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S664", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs119103256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103256" }, { "id": "rs119103256", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119103256#frequency_tab" }, { "id": "rs119103256", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119103256" } ], "glycoeffect": [], "start_pos": 666, "end_pos": 666, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750557", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q666", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs119103256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103256" }, { "id": "rs119103256", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119103256#frequency_tab" }, { "id": "rs119103256", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119103256" }, { "id": "9506549", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9506549" } ], "glycoeffect": [], "start_pos": 666, "end_pos": 666, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750557", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q666", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs119103256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103256" }, { "id": "rs119103256", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119103256#frequency_tab" }, { "id": "rs119103256", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119103256" } ], "glycoeffect": [], "start_pos": 666, "end_pos": 666, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750557", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q666", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1337679288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1337679288" }, { "id": "rs1337679288", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1337679288#frequency_tab" } ], "glycoeffect": [], "start_pos": 667, "end_pos": 667, "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750554", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I667", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "rs1241055622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1241055622" }, { "id": "rs1241055622", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1241055622#frequency_tab" }, { "id": "rs1241055622", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1241055622" }, { "id": "rs1241055622", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1241055622" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 668, "end_pos": 668, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750550", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S668", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs763289422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763289422" }, { "id": "rs763289422", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763289422" }, { "id": "rs763289422", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763289422" } ], "glycoeffect": [], "start_pos": 66, "end_pos": 66, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64759702", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G66", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs113806080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113806080" }, { "id": "rs113806080", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs113806080" }, { "id": "rs113806080", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113806080" }, { "id": "rs113806080", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs113806080#frequency_tab" }, { "id": "rs113806080", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs113806080" } ], "glycoeffect": [], "start_pos": 670, "end_pos": 670, "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750544", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A670", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2058349059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058349059" }, { "id": "rs2058349059", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2058349059#frequency_tab" }, { "id": "rs2058349059", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2058349059" } ], "glycoeffect": [], "start_pos": 670, "end_pos": 670, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750545", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A670", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "rs113806080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113806080" }, { "id": "rs113806080", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs113806080" }, { "id": "rs113806080", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113806080" }, { "id": "rs113806080", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs113806080#frequency_tab" }, { "id": "rs113806080", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs113806080" }, { "id": "rs113806080", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs113806080" } ], "glycoeffect": [], "start_pos": 670, "end_pos": 670, "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750544", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A670", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs768434441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768434441" }, { "id": "rs768434441", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768434441" }, { "id": "rs768434441", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768434441" } ], "glycoeffect": [], "start_pos": 671, "end_pos": 671, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750542", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G671", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [], "start_pos": 671, "end_pos": 671, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "64750541", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G671", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs768434441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768434441" }, { "id": "rs768434441", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768434441" }, { "id": "rs768434441", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768434441" } ], "glycoeffect": [], "start_pos": 671, "end_pos": 671, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750542", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G671", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1458749530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1458749530" }, { "id": "rs1458749530", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1458749530#frequency_tab" }, { "id": "rs1458749530", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1458749530" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 672, "end_pos": 672, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750538", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T672", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1458749530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1458749530" }, { "id": "rs1458749530", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1458749530#frequency_tab" }, { "id": "rs1458749530", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1458749530" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 672, "end_pos": 672, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750538", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T672", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1212476417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212476417" }, { "id": "rs1212476417", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1212476417" } ], "glycoeffect": [], "start_pos": 673, "end_pos": 673, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750536", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E673", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2058348746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058348746" }, { "id": "rs2058348746", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2058348746" } ], "glycoeffect": [], "start_pos": 674, "end_pos": 674, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750533", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A674", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1413827545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413827545" }, { "id": "rs1413827545", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1413827545#frequency_tab" }, { "id": "rs1413827545", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1413827545" } ], "glycoeffect": [], "start_pos": 674, "end_pos": 674, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750532", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A674", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs794727189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs794727189" }, { "id": "rs794727189", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs794727189#frequency_tab" }, { "id": "rs794727189", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs794727189" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 675, "end_pos": 675, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750529", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S675", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2058348634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058348634" }, { "id": "rs2058348634", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2058348634#frequency_tab" } ], "glycoeffect": [], "start_pos": 676, "end_pos": 676, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750526", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G676", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2230309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2230309" }, { "id": "rs2230309", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2230309" } ], "glycoeffect": [], "start_pos": 676, "end_pos": 676, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750527", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G676", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2058348583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058348583" }, { "id": "rs2058348583", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2058348583" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 677, "end_pos": 677, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750524", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T677", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs928891607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs928891607" }, { "id": "rs928891607", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs928891607#frequency_tab" }, { "id": "rs928891607", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs928891607" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 677, "end_pos": 677, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750523", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T677", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs928891607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs928891607" }, { "id": "rs928891607", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs928891607#frequency_tab" }, { "id": "rs928891607", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs928891607" } ], "glycoeffect": [], "start_pos": 677, "end_pos": 677, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750523", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T677", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [], "start_pos": 678, "end_pos": 678, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750520", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G678", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs755716626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755716626" }, { "id": "rs755716626", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755716626" }, { "id": "rs755716626", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755716626" } ], "glycoeffect": [], "start_pos": 678, "end_pos": 678, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750521", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G678", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs755716626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755716626" }, { "id": "rs755716626", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755716626" }, { "id": "rs755716626", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755716626" } ], "glycoeffect": [], "start_pos": 678, "end_pos": 678, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750521", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G678", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs957181304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs957181304" }, { "id": "rs957181304", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs957181304#frequency_tab" }, { "id": "rs957181304", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs957181304" } ], "glycoeffect": [], "start_pos": 67, "end_pos": 67, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64759700", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R67", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "rs371357163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371357163" }, { "id": "rs371357163", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371357163#frequency_tab" }, { "id": "rs371357163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371357163" }, { "id": "rs371357163", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371357163" } ], "glycoeffect": [], "start_pos": 67, "end_pos": 67, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64759699", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R67", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs750857876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750857876" }, { "id": "rs2496675044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2496675044" } ], "glycoeffect": [], "start_pos": 67, "end_pos": 67, "sequence_org": "R", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64759704", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R67", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1176352993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1176352993" }, { "id": "rs1176352993", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1176352993#frequency_tab" }, { "id": "rs1176352993", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1176352993" } ], "glycoeffect": [], "start_pos": 680, "end_pos": 680, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750515", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M680", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1176352993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1176352993" }, { "id": "rs1176352993", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1176352993#frequency_tab" }, { "id": "rs1176352993", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1176352993" } ], "glycoeffect": [], "start_pos": 680, "end_pos": 680, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750515", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M680", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1376064042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1376064042" }, { "id": "rs1376064042", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1376064042#frequency_tab" }, { "id": "rs745509448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745509448" }, { "id": "rs745509448", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745509448" }, { "id": "rs745509448", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745509448#frequency_tab" }, { "id": "rs745509448", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745509448" } ], "glycoeffect": [], "start_pos": 682, "end_pos": 682, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750507", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F682", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1326721251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1326721251" }, { "id": "rs1326721251", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1326721251#frequency_tab" }, { "id": "rs1326721251", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1326721251" } ], "glycoeffect": [], "start_pos": 682, "end_pos": 682, "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750508", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F682", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "rs780873398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780873398" }, { "id": "rs780873398", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780873398" }, { "id": "rs780873398", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780873398" }, { "id": "rs780873398", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs780873398" } ], "glycoeffect": [], "start_pos": 683, "end_pos": 683, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750504", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "M683", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1448146849", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448146849" }, { "id": "rs1448146849", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1448146849" } ], "glycoeffect": [], "start_pos": 683, "end_pos": 683, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750505", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M683", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1309230359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1309230359" }, { "id": "rs1309230359", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1309230359" } ], "glycoeffect": [], "start_pos": 683, "end_pos": 683, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750506", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M683", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [], "start_pos": 684, "end_pos": 684, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750503", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L684", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs758730269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758730269" }, { "id": "rs758730269", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758730269" }, { "id": "rs758730269", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758730269" } ], "glycoeffect": [], "start_pos": 684, "end_pos": 684, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750502", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L684", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1592408348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1592408348" }, { "id": "rs1592408348", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1592408348" } ], "glycoeffect": [], "start_pos": 685, "end_pos": 685, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750500", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N685", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [], "start_pos": 685, "end_pos": 685, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "K", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750498", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "N685", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs765656412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765656412" }, { "id": "rs765656412", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765656412" }, { "id": "rs765656412", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765656412#frequency_tab" }, { "id": "rs765656412", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765656412" } ], "glycoeffect": [], "start_pos": 685, "end_pos": 685, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750499", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N685", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2496648421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2496648421" } ], "glycoeffect": [], "start_pos": 686, "end_pos": 686, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750496", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G686", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs144081869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144081869" }, { "id": "rs144081869", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144081869" }, { "id": "rs144081869", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144081869#frequency_tab" }, { "id": "rs144081869", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144081869" }, { "id": "9506549", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9506549" } ], "glycoeffect": [], "start_pos": 686, "end_pos": 686, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750497", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G686", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2135828575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135828575" }, { "id": "rs2135828575", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2135828575" } ], "glycoeffect": [], "start_pos": 687, "end_pos": 687, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750493", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A687", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1324009345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324009345" }, { "id": "rs1324009345", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1324009345" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 689, "end_pos": 689, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750487", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T689", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1057516349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057516349" }, { "id": "rs1057516349", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1057516349#frequency_tab" } ], "glycoeffect": [], "start_pos": 68, "end_pos": 68, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64759695", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W68", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [], "start_pos": 68, "end_pos": 68, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "C", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64759695", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W68", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1308677081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1308677081" }, { "id": "rs1308677081", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1308677081" } ], "glycoeffect": [], "start_pos": 690, "end_pos": 690, "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750485", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I690", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs140349323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140349323" }, { "id": "rs140349323", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140349323#frequency_tab" }, { "id": "rs140349323", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140349323" } ], "glycoeffect": [], "start_pos": 690, "end_pos": 690, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750484", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I690", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1308677081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1308677081" }, { "id": "rs1308677081", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1308677081" } ], "glycoeffect": [], "start_pos": 690, "end_pos": 690, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750485", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I690", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1462145774", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1462145774" }, { "id": "rs1462145774", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1462145774#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 692, "end_pos": 692, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750478", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T692", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 692, "end_pos": 692, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "S", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750479", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T692", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:4455", "DOID:3675" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1592408302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1592408302" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 692, "end_pos": 692, "sequence_org": "T", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750477_64750478", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T692", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1375876566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1375876566" }, { "id": "rs1375876566", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1375876566" } ], "glycoeffect": [], "start_pos": 693, "end_pos": 693, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750476", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M693", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200688234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200688234" }, { "id": "rs200688234", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200688234" }, { "id": "rs200688234", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200688234#frequency_tab" }, { "id": "rs200688234", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200688234" } ], "glycoeffect": [], "start_pos": 693, "end_pos": 693, "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750475", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M693", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200688234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200688234" }, { "id": "rs200688234", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200688234" }, { "id": "rs200688234", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200688234#frequency_tab" }, { "id": "rs200688234", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200688234" } ], "glycoeffect": [], "start_pos": 693, "end_pos": 693, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750475", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M693", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1375876566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1375876566" }, { "id": "rs1375876566", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1375876566" } ], "glycoeffect": [], "start_pos": 693, "end_pos": 693, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750476", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M693", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773543072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773543072" }, { "id": "rs773543072", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773543072" }, { "id": "rs773543072", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773543072" } ], "glycoeffect": [], "start_pos": 694, "end_pos": 694, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750471", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D694", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1446934873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1446934873" }, { "id": "rs1446934873", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1446934873" } ], "glycoeffect": [], "start_pos": 694, "end_pos": 694, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750472", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D694", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768604948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768604948" }, { "id": "rs768604948", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768604948" }, { "id": "rs768604948", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768604948#frequency_tab" }, { "id": "rs768604948", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768604948" } ], "glycoeffect": [], "start_pos": 695, "end_pos": 695, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750470", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G695", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "rs768604948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768604948" } ], "glycoeffect": [], "start_pos": 695, "end_pos": 695, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "W", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750470", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G695", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs2496648248", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2496648248" } ], "glycoeffect": [], "start_pos": 696, "end_pos": 696, "sequence_org": "A", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750470", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A696", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs773962878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773962878" }, { "id": "rs773962878", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773962878" }, { "id": "rs773962878", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773962878" } ], "glycoeffect": [], "start_pos": 698, "end_pos": 698, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750461", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V698", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768505332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768505332" }, { "id": "rs768505332", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768505332" }, { "id": "rs768505332", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768505332#frequency_tab" }, { "id": "rs768505332", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768505332" } ], "glycoeffect": [], "start_pos": 699, "end_pos": 699, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750457", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E699", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764749317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764749317" }, { "id": "rs764749317", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764749317" }, { "id": "rs764749317", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764749317#frequency_tab" }, { "id": "rs764749317", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764749317" }, { "id": "rs764749317", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs764749317" } ], "glycoeffect": [], "start_pos": 6, "end_pos": 6, "sequence_org": "S", "sequence_mut": "T", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64759883", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S6", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2135828485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135828485" }, { "id": "rs2135828485", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2135828485" } ], "glycoeffect": [], "start_pos": 700, "end_pos": 700, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750453", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M700", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [], "start_pos": 701, "end_pos": 701, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "G", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750451", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "A701", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs775556000", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775556000" }, { "id": "rs775556000", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775556000" }, { "id": "rs775556000", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775556000#frequency_tab" }, { "id": "rs775556000", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775556000" } ], "glycoeffect": [], "start_pos": 702, "end_pos": 702, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750449", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E702", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs775556000", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775556000" }, { "id": "rs775556000", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775556000" }, { "id": "rs775556000", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775556000#frequency_tab" }, { "id": "rs775556000", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775556000" } ], "glycoeffect": [], "start_pos": 702, "end_pos": 702, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750449", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E702", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs984250045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs984250045" }, { "id": "rs984250045", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs984250045#frequency_tab" }, { "id": "rs984250045", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs984250045" } ], "glycoeffect": [], "start_pos": 703, "end_pos": 703, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750446", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E703", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2058347344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058347344" }, { "id": "rs2058347344", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2058347344#frequency_tab" }, { "id": "rs2058347344", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2058347344" } ], "glycoeffect": [], "start_pos": 704, "end_pos": 704, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750443", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A704", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1483102315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483102315" }, { "id": "rs1483102315", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1483102315" }, { "id": "rs1483102315", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483102315" } ], "glycoeffect": [], "start_pos": 704, "end_pos": 704, "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "NC_000011.10", "chr_pos": "64750442", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "0.000010", "site_lbl": "A704", "keywords": [ "ebi", "somatic", "germline", "disease" ], "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [], "start_pos": 705, "end_pos": 705, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750439", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G705", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 705, "end_pos": 705, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750440", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G705", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2058347214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058347214" } ], "glycoeffect": [], "start_pos": 705, "end_pos": 705, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750440_64750441", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G705", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs770519283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770519283" }, { "id": "rs770519283", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770519283" }, { "id": "rs770519283", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770519283#frequency_tab" }, { "id": "rs770519283", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770519283" } ], "glycoeffect": [], "start_pos": 706, "end_pos": 706, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750436", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E706", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "rs915786151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs915786151" }, { "id": "rs915786151", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs915786151#frequency_tab" }, { "id": "rs915786151", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs915786151" }, { "id": "rs915786151", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs915786151" } ], "glycoeffect": [], "start_pos": 706, "end_pos": 706, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750437", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E706", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 706, "end_pos": 706, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "Q", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750437", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E706", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs770519283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770519283" }, { "id": "rs770519283", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770519283" }, { "id": "rs770519283", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770519283#frequency_tab" }, { "id": "rs770519283", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770519283" } ], "glycoeffect": [], "start_pos": 706, "end_pos": 706, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750436", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E706", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1285381507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1285381507" }, { "id": "rs1285381507", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1285381507" } ], "glycoeffect": [], "start_pos": 707, "end_pos": 707, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750433", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E707", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2496648065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2496648065" } ], "glycoeffect": [], "start_pos": 708, "end_pos": 708, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750430", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N708", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1007363915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1007363915" } ], "glycoeffect": [], "start_pos": 709, "end_pos": 709, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750426", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F709", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2496647995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2496647995" } ], "glycoeffect": [], "start_pos": 709, "end_pos": 709, "sequence_org": "F", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750411_64750429", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F709", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs765844107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765844107" }, { "id": "rs765844107", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765844107" }, { "id": "rs765844107", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765844107#frequency_tab" }, { "id": "rs765844107", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765844107" } ], "glycoeffect": [], "start_pos": 70, "end_pos": 70, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64759691", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R70", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs765844107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765844107" }, { "id": "rs765844107", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765844107" }, { "id": "rs765844107", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765844107#frequency_tab" }, { "id": "rs765844107", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765844107" } ], "glycoeffect": [], "start_pos": 70, "end_pos": 70, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64759691", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R70", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759631990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759631990" }, { "id": "rs759631990", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759631990" }, { "id": "rs759631990", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759631990#frequency_tab" }, { "id": "rs759631990", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759631990" } ], "glycoeffect": [], "start_pos": 70, "end_pos": 70, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64759690", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R70", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759631990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759631990" }, { "id": "rs759631990", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759631990" }, { "id": "rs759631990", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759631990#frequency_tab" }, { "id": "rs759631990", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759631990" }, { "id": "rs759631990", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs759631990" } ], "glycoeffect": [], "start_pos": 70, "end_pos": 70, "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64759690", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R70", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs759631990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759631990" }, { "id": "rs759631990", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759631990" }, { "id": "rs759631990", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759631990#frequency_tab" }, { "id": "rs759631990", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759631990" } ], "glycoeffect": [], "start_pos": 70, "end_pos": 70, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64759690", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R70", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2496674944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2496674944" } ], "glycoeffect": [], "start_pos": 70, "end_pos": 70, "sequence_org": "R", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64759690_64759692", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R70", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs527236147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527236147" } ], "glycoeffect": [], "start_pos": 710, "end_pos": 710, "sequence_org": "F", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750424AAG", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F710", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [], "start_pos": 711, "end_pos": 711, "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "M", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750420", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I711", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs779080119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779080119" }, { "id": "rs779080119", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779080119" }, { "id": "rs779080119", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779080119" } ], "glycoeffect": [], "start_pos": 711, "end_pos": 711, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750421", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I711", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1323673131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323673131" }, { "id": "rs1323673131", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1323673131#frequency_tab" } ], "glycoeffect": [], "start_pos": 712, "end_pos": 712, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750418", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F712", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754283023", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754283023" }, { "id": "rs754283023", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754283023" }, { "id": "rs754283023", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754283023" } ], "glycoeffect": [], "start_pos": 713, "end_pos": 713, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750415", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G713", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755433896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755433896" }, { "id": "rs755433896", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755433896" } ], "glycoeffect": [], "start_pos": 713, "end_pos": 713, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750416", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G713", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [], "start_pos": 713, "end_pos": 713, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750415", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G713", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1057517067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057517067" } ], "glycoeffect": [], "start_pos": 713, "end_pos": 713, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750419", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G713", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs780656375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780656375" }, { "id": "rs780656375", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780656375" }, { "id": "rs780656375", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780656375#frequency_tab" }, { "id": "rs780656375", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780656375" } ], "glycoeffect": [], "start_pos": 715, "end_pos": 715, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750410", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R715", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [], "start_pos": 715, "end_pos": 715, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "L", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750409", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R715", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "rs756722295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756722295" }, { "id": "rs756722295", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756722295" }, { "id": "rs756722295", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756722295#frequency_tab" }, { "id": "rs756722295", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756722295" } ], "glycoeffect": [], "start_pos": 715, "end_pos": 715, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750409", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R715", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:1659", "DOID:4203", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs780656375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780656375" }, { "id": "rs780656375", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780656375" }, { "id": "rs780656375", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780656375#frequency_tab" }, { "id": "rs780656375", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780656375" } ], "glycoeffect": [], "start_pos": 715, "end_pos": 715, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750410", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R715", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs750483467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750483467" }, { "id": "rs750483467", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750483467" } ], "glycoeffect": [], "start_pos": 716, "end_pos": 716, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750406", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V716", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2058346692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058346692" }, { "id": "rs2058346692", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2058346692" } ], "glycoeffect": [], "start_pos": 716, "end_pos": 716, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750407", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V716", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2058346692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058346692" }, { "id": "rs2058346692", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2058346692" } ], "glycoeffect": [], "start_pos": 716, "end_pos": 716, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750407", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V716", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2496647974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2496647974" } ], "glycoeffect": [], "start_pos": 716, "end_pos": 716, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750409", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V716", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs767722082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767722082" }, { "id": "rs767722082", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767722082" } ], "glycoeffect": [], "start_pos": 717, "end_pos": 717, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750403", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E717", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [], "start_pos": 718, "end_pos": 718, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750401", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D718", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs762063648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762063648" }, { "id": "rs762063648", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762063648" }, { "id": "rs762063648", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762063648" } ], "glycoeffect": [], "start_pos": 718, "end_pos": 718, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750400", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D718", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2135828360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135828360" } ], "glycoeffect": [], "start_pos": 718, "end_pos": 718, "sequence_org": "D", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750399", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D718", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2058346558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058346558" }, { "id": "rs2058346558", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2058346558#frequency_tab" } ], "glycoeffect": [], "start_pos": 719, "end_pos": 719, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750397", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V719", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1250987209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1250987209" }, { "id": "rs1250987209", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1250987209" } ], "glycoeffect": [], "start_pos": 719, "end_pos": 719, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750398", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V719", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377713922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377713922" }, { "id": "rs377713922", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377713922" }, { "id": "rs377713922", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377713922#frequency_tab" }, { "id": "rs377713922", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377713922" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 71, "end_pos": 71, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64759687", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T71", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377713922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377713922" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 71, "end_pos": 71, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64759687", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T71", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [], "start_pos": 720, "end_pos": 720, "subjects_tested": "9251", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "G", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750394", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D720", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0080638", "DOID:7757", "DOID:706", "DOID:0050743", "DOID:6536", "DOID:1039", "DOID:1036", "DOID:0081452", "DOID:4960", "DOID:5772", "DOID:5604", "DOID:8527" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1345296605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1345296605" }, { "id": "rs1345296605", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1345296605" } ], "glycoeffect": [], "start_pos": 720, "end_pos": 720, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750395", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D720", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2058346483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058346483" }, { "id": "rs2058346483", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2058346483" } ], "glycoeffect": [], "start_pos": 720, "end_pos": 720, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750394", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D720", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [], "start_pos": 721, "end_pos": 721, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "T", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750391", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K721", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1131691265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131691265" }, { "id": "rs1131691265", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1131691265" } ], "glycoeffect": [], "start_pos": 722, "end_pos": 722, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750388", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L722", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1163587055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1163587055" }, { "id": "rs1163587055", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1163587055" } ], "glycoeffect": [], "start_pos": 723, "end_pos": 723, "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750385", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D723", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1163587055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1163587055" }, { "id": "rs1163587055", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1163587055" } ], "glycoeffect": [], "start_pos": 723, "end_pos": 723, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750385", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D723", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1565533090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1565533090" }, { "id": "rs1565533090", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1565533090" } ], "glycoeffect": [], "start_pos": 724, "end_pos": 724, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750382", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q724", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1474046583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1474046583" }, { "id": "rs1474046583", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1474046583#frequency_tab" }, { "id": "rs1474046583", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1474046583" } ], "glycoeffect": [], "start_pos": 725, "end_pos": 725, "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750379", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R725", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [], "start_pos": 725, "end_pos": 725, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "K", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750379", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R725", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1416120916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416120916" }, { "id": "rs1416120916", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416120916" } ], "glycoeffect": [], "start_pos": 725, "end_pos": 725, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64750378", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R725", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "rs1190587944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1190587944" }, { "id": "rs1190587944", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1190587944" } ], "glycoeffect": [], "start_pos": 726, "end_pos": 726, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750376", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G726", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [], "start_pos": 726, "end_pos": 726, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64750377", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G726", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs751710019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751710019" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 727, "end_pos": 727, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64747355", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y727", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1592405839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1592405839" }, { "id": "rs1592405839", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1592405839" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 727, "end_pos": 727, "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64747357", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y727", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200058475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200058475" }, { "id": "rs200058475", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200058475" }, { "id": "rs200058475", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200058475#frequency_tab" }, { "id": "rs200058475", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200058475" } ], "glycoeffect": [], "start_pos": 728, "end_pos": 728, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64747354", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N728", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2058321851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058321851" } ], "glycoeffect": [], "start_pos": 728, "end_pos": 728, "sequence_org": "N", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64747355", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N728", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs763116413", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763116413" }, { "id": "rs763116413", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763116413" }, { "id": "rs763116413", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763116413" } ], "glycoeffect": [], "start_pos": 729, "end_pos": 729, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64747350", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A729", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 72, "end_pos": 72, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "K", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64759685", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q72", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "rs1299991104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1299991104" }, { "id": "rs1299991104", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1299991104" }, { "id": "rs1299991104", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1299991104" } ], "glycoeffect": [], "start_pos": 730, "end_pos": 730, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "*", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64747348", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q730", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" } ], "glycoeffect": [], "start_pos": 730, "end_pos": 730, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "R", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64747347", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Q730", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2496639945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2496639945" } ], "glycoeffect": [], "start_pos": 730, "end_pos": 730, "sequence_org": "Q", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64747347_64747348", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q730", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 732, "end_pos": 732, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Y", "sequence_mut": "H", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "64747342", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y732", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs140102591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140102591" }, { "id": "rs140102591", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140102591" }, { "id": "rs140102591", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140102591" }, { "id": "rs140102591", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140102591#frequency_tab" }, { "id": "rs140102591", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140102591" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 733, "end_pos": 733, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "64747337", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y733", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle's disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease, type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Pygm deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ] } }