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U.S.A.", "date": "1998", "authors": "Rock FL, Hardiman G, Timans JC, Kastelein RA, Bazan JF", "reference": { "type": "PubMed", "id": "9435236", "url": "https://pubmed.ncbi.nlm.nih.gov/9435236" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O60603-1", "protein_name": "Toll-like receptor 2", "gene_name": "TLR2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00206-1", "protein_name": "Toll-like receptor 4", "gene_name": "TLR4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15455-1", "protein_name": "Toll-like receptor 3", "gene_name": "TLR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15399-1", "protein_name": "Toll-like receptor 1", "gene_name": "TLR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60602-1", "protein_name": "Toll-like receptor 5", "gene_name": "TLR5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60603", "url": 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Oncol.", "date": "1994", "authors": "Mok S C, Wong K K, Chan R K, Lau C C, Tsao S W, Knapp R C, Berkowitz R S", "reference": { "type": "PubMed", "id": "8314147", "url": "https://pubmed.ncbi.nlm.nih.gov/8314147" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P98082-1", "protein_name": "Disabled homolog 2", "gene_name": "DAB2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q4L180-1", "protein_name": "Filamin A-interacting protein 1-like", "gene_name": "FILIP1L", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P98082", "url": "https://www.uniprot.org/uniprotkb/P98082" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8314147", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119462981" }, { "id": "rs119462981", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119462981" }, { "id": "11320179", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11320179" }, { "id": "12369018", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12369018" } ], "glycoeffect": [], "start_pos": 303, "end_pos": 303, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "131510401", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q303", "disease": [ { "disease_id": "DOID:0110297", "recommended_name": { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)." }, "synonyms": [ { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "LGMD2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "MDDGC1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy limb-girdle type 2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD-POMT1 related", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "MDDGC1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "POMT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy - intellectual disability", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy type 2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", "description": "" }, { "id": "MIM:609308", "resource": "MIM", "url": "https://www.omim.org/entry/609308", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1" } ], "unlinked_id_list": [], "evidence": [ { "id": "609308", "database": "MIM", "url": "https://www.omim.org/entry/609308" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0110297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110297" } ] }, { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] }, { "disease_id": "DOID:0050588", "recommended_name": { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase." }, "synonyms": [ { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "CMD due to dystroglycanopathy", "description": "" }, { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050588" } ] }, { "disease_id": "DOID:0112375", "recommended_name": { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "muscular dystrophy-dystroglycanopathy type B", "description": "A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies." }, "synonyms": [ { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "MDDGB", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "613155", "database": "MIM", "url": "https://www.omim.org/entry/613155" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000100000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q9Y6A1-1" }, { "evidence": [ { "id": "rs587777817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587777817" }, { "id": "12369018", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12369018" }, { "id": "18513969", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18513969" }, { "id": "19299310", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19299310" } ], "glycoeffect": [], "start_pos": 704, "end_pos": 704, "sequence_org": "A", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "131522972", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": 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"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": "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:0110292", "recommended_name": { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "autosomal recessive limb-girdle muscular dystrophy type 2O", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34." }, "synonyms": [ { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related", "description": "" }, { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "LGMD2O", "description": "" }, { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "MDDGC3", "description": "" }, { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": 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dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21." }, "synonyms": [ { "id": "DOID:0110293", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110293", "name": "LGMD2P", "description": "" }, { "id": "DOID:0110293", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110293", "name": "MDDGC9", "description": "" }, { "id": "DOID:0110293", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110293", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C9", "description": "" }, { "id": "DOID:0110293", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110293", "name": "muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related", "description": "" }, { "id": "MONDO:0013440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013440", "name": "autosomal recessive limb-girdle muscular dystrophy type 2P", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles." }, { "id": "MONDO:0013440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013440", "name": "DAG1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0013440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013440", "name": "LGMD2P", "description": "" }, { "id": "MONDO:0013440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013440", "name": "MDDGC9", "description": "" }, { "id": "MONDO:0013440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013440", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1", "description": "" }, { "id": "MONDO:0013440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013440", "name": "limb-girdle muscular dystrophy type 2P", "description": "" }, { "id": "MONDO:0013440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013440", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9", "description": "" }, { "id": "MIM:613818", "resource": "MIM", "url": "https://www.omim.org/entry/613818", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C9", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C9" } ], "unlinked_id_list": [], "evidence": [ { "id": "613818", "database": "MIM", "url": "https://www.omim.org/entry/613818" }, { "id": "0110293", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110293" } ] }, { "disease_id": "DOID:0111232", "recommended_name": { "id": "DOID:0111232", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111232", "name": "congenital muscular dystrophy-dystroglycanopathy type A9", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31." }, "synonyms": [ { "id": "DOID:0111232", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111232", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9", "description": "" }, { "id": "DOID:0111232", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111232", "name": "Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related", "description": "" }, { "id": "DOID:0111232", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111232", "name": "MDDGA9", "description": "" }, { "id": "MONDO:0014683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014683", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9", "description": "" }, { "id": "MONDO:0014683", "resource": "MONDO", "url": 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"Q14118-1" }, { "evidence": [ { "id": "rs119462982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119462982" }, { "id": "rs119462982", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119462982" }, { "id": "rs119462982", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119462982" }, { "id": "14678799", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14678799" }, { "id": "15792865", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15792865" } ], "glycoeffect": [], "start_pos": 200, "end_pos": 200, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "131509801", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A200", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110297", "recommended_name": { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)." }, "synonyms": [ { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "LGMD2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "MDDGC1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy limb-girdle type 2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD-POMT1 related", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "MDDGC1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "POMT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy - intellectual disability", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy type 2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", "description": "" }, { "id": "MIM:609308", "resource": "MIM", "url": "https://www.omim.org/entry/609308", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1" } ], "unlinked_id_list": [], "evidence": [ { "id": "609308", "database": "MIM", "url": "https://www.omim.org/entry/609308" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0110297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110297" } ] }, { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular 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"DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "CMD due to dystroglycanopathy", "description": "" }, { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": 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"n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Manya H, Chiba A, Yoshida A, Wang X, Chiba Y, Jigami Y, Margolis RU, Endo T", "reference": { "type": "PubMed", "id": "14699049", "url": "https://pubmed.ncbi.nlm.nih.gov/14699049" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q14118-1", "protein_name": "Dystroglycan 1", "gene_name": "DAG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WZA1-1", "protein_name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1", "gene_name": "POMGNT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKY4-1", "protein_name": "Protein O-mannosyl-transferase 2", "gene_name": "POMT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y6A1-1", "protein_name": "Protein O-mannosyl-transferase 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"count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { 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"description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)." }, "synonyms": [ { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "LGMD2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "MDDGC1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy limb-girdle type 2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD-POMT1 related", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "MDDGC1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "POMT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy - intellectual disability", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy type 2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", "description": "" }, { "id": "MIM:609308", "resource": "MIM", "url": "https://www.omim.org/entry/609308", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1" } ], "unlinked_id_list": [], "evidence": [ { "id": "609308", "database": "MIM", "url": "https://www.omim.org/entry/609308" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0110297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110297" } ] }, { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] }, { "disease_id": "DOID:0050588", "recommended_name": { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase." }, "synonyms": [ { "id": 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "O Mannosylation of alpha-dystroglycan is essential for lymphocytic choriomeningitis virus receptor function.", "journal": "Journal of virology", "date": "2005", "authors": "Imperiali M, Thoma C, Pavoni E, Brancaccio A, Callewaert N, Oxenius A", "reference": { "type": "PubMed", "id": "16254364", "url": "https://pubmed.ncbi.nlm.nih.gov/16254364" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q14118-1", "protein_name": "Dystroglycan 1", "gene_name": "DAG1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14118", "url": "https://www.uniprot.org/uniprotkb/Q14118" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16254364", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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"resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "LGMD2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "MDDGC1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy limb-girdle type 2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD-POMT1 related", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "MDDGC1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "POMT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy - intellectual disability", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy type 2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", "description": "" }, { "id": "MIM:609308", "resource": "MIM", "url": "https://www.omim.org/entry/609308", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1" } ], "unlinked_id_list": [], "evidence": [ { "id": "609308", "database": "MIM", "url": "https://www.omim.org/entry/609308" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0110297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110297" } ] }, { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] }, { "disease_id": "DOID:0050588", "recommended_name": { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase." }, "synonyms": [ { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "CMD due to dystroglycanopathy", "description": "" }, { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050588" } ] }, { "disease_id": "DOID:0112375", "recommended_name": { "id": "DOID:0112375", "resource": "Disease Ontology", "url": 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"MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "613155", "database": "MIM", "url": "https://www.omim.org/entry/613155" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q9Y6A1-1" }, { "evidence": [ { "id": "rs119462984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119462984" }, { "id": "rs119462984", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs119462984" }, { "id": "16575835", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16575835" } ], "glycoeffect": [], "start_pos": 582, "end_pos": 582, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "131520175", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W582", "disease": [ { "disease_id": "DOID:0110297", "recommended_name": { "id": "DOID:0110297", 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Mild pseudohypertrophy and joint contractures of the ankles have also been reported." }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD-POMT1 related", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "MDDGC1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "POMT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy - intellectual disability", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy type 2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", "description": "" }, { "id": "MIM:609308", "resource": "MIM", "url": "https://www.omim.org/entry/609308", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1" } ], "unlinked_id_list": [], "evidence": [ { "id": "609308", "database": "MIM", "url": "https://www.omim.org/entry/609308" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0110297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110297" } ] }, { "disease_id": "DOID:0050588", "recommended_name": { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase." }, "synonyms": [ { "id": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050588" } ] }, { "disease_id": "DOID:0112375", "recommended_name": { "id": "DOID:0112375", "resource": "Disease Ontology", "url": 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"minor_allelic_frequency": "", "site_lbl": "Q590", "disease": [ { "disease_id": "DOID:0110297", "recommended_name": { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)." }, "synonyms": [ { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "LGMD2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": 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"https://www.omim.org/entry/609308", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1" } ], "unlinked_id_list": [], "evidence": [ { "id": "609308", "database": "MIM", "url": "https://www.omim.org/entry/609308" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0110297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110297" } ] }, { "disease_id": "DOID:0050588", "recommended_name": { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase." }, "synonyms": [ { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "CMD due to dystroglycanopathy", "description": "" }, { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050588" } ] }, { "disease_id": "DOID:0112375", "recommended_name": { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "muscular dystrophy-dystroglycanopathy type B", "description": "A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies." }, "synonyms": [ { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "MDDGB", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "613155", "database": "MIM", "url": "https://www.omim.org/entry/613155" }, { "id": "POMT1", "database": "Genomics England", "url": 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"sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "131506184", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G65", "disease": [ { "disease_id": "DOID:0110297", "recommended_name": { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)." }, "synonyms": [ { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "LGMD2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "MDDGC1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy limb-girdle type 2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD-POMT1 related", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "MDDGC1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "POMT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy - intellectual disability", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy type 2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", "description": "" }, { "id": "MIM:609308", "resource": "MIM", "url": "https://www.omim.org/entry/609308", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1" } ], "unlinked_id_list": [], "evidence": [ { "id": "609308", "database": "MIM", "url": "https://www.omim.org/entry/609308" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0110297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110297" } ] }, { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] }, { "disease_id": "DOID:0050588", "recommended_name": { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase." }, "synonyms": [ { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "CMD due to dystroglycanopathy", "description": "" }, { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050588" } ] }, { "disease_id": "DOID:0112375", "recommended_name": { "id": "DOID:0112375", "resource": "Disease Ontology", "url": 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"title": "A dystroglycan mutation associated with limb-girdle muscular dystrophy.", "journal": "The New England journal of medicine", "date": "2011", "authors": "Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, Beltran-Valero de Bernabe D, Gundesli H, Willer T, Satz JS, Crawford RW, Burden SJ, Kunz S, Oldstone MB, Accardi A, Talim B, Muntoni F, Topaloglu H, Dincer P, Campbell KP", "reference": { "type": "PubMed", "id": "21388311", "url": "https://pubmed.ncbi.nlm.nih.gov/21388311" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q14118-1", "protein_name": "Dystroglycan 1", "gene_name": "DAG1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14118", "url": "https://www.uniprot.org/uniprotkb/Q14118" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs193922955", "database": "dbSNP", 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Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles." }, { "id": "MONDO:0013440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013440", "name": "DAG1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0013440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013440", "name": "LGMD2P", "description": "" }, { "id": "MONDO:0013440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013440", "name": "MDDGC9", "description": "" }, { "id": "MONDO:0013440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013440", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1", "description": "" }, { "id": "MONDO:0013440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013440", "name": "limb-girdle muscular dystrophy type 2P", 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"o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The o-mannosylation pathway: 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0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "HNK-1 sulfotransferase-dependent sulfation regulating laminin-binding glycans occurs in the post-phosphoryl moiety on alpha-dystroglycan.", "journal": "Glycobiology", "date": "2013", "authors": "Nakagawa N, Takematsu H, Oka S", "reference": { "type": "PubMed", "id": "23723439", "url": "https://pubmed.ncbi.nlm.nih.gov/23723439" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q14118-1", "protein_name": "Dystroglycan 1", "gene_name": "DAG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O54702-1", "protein_name": "Carbohydrate sulfotransferase 10", "gene_name": "Chst10", "tax_name": "Rat" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14118", "url": "https://www.uniprot.org/uniprotkb/Q14118" } ], "common_name": "Human", "glygen_name": "Human", 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"evidence": [ { "database": "UniProtKB", "id": "Q14118", "url": "https://www.uniprot.org/uniprotkb/Q14118" }, { "database": "PubMed", "id": "23723439", "url": "https://pubmed.ncbi.nlm.nih.gov/23723439" } ], "uniprot_canonical_ac": "Q14118-1" }, { "start_pos": 379, "end_pos": 379, "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes LARGE1-dependent glycosylation, CHST10-dependent sulfation and consequent binding to laminin; when associated with 311-R--I-370 del.", "evidence": [ { "database": "UniProtKB", "id": "Q14118", "url": "https://www.uniprot.org/uniprotkb/Q14118" }, { "database": "PubMed", "id": "23723439", "url": "https://pubmed.ncbi.nlm.nih.gov/23723439" } ], "uniprot_canonical_ac": "Q14118-1" } ], "record_id": "pubmed.23723439", "abstract": "", "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", 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0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 1 }, { "field": "exact_o_linked_sites", "count": 1 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "icn3d_view.label", "icn3d_view.url", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl", "filter_code", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] } ]