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Biol. Chem.", "date": "2005", "authors": "Thoden James B, Timson David J, Reece Richard J, Holden Hazel M", "reference": { "type": "PubMed", "id": "15590630", "url": "https://pubmed.ncbi.nlm.nih.gov/15590630" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P51570-1", "protein_name": "Galactokinase", "gene_name": "GALK1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51570", "url": "https://www.uniprot.org/uniprotkb/P51570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15590630", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": 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Biol.", "date": "2008", "authors": "Koch Michael, Diez Joachim, Fritz G\u00fcnter", "reference": { "type": "PubMed", "id": "18394645", "url": "https://pubmed.ncbi.nlm.nih.gov/18394645" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P29034-1", "protein_name": "Protein S100-A2", "gene_name": "S100A2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P29034", "url": "https://www.uniprot.org/uniprotkb/P29034" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18394645", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", 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clinical respiratory journal", "date": "2024-08", "authors": "Zeng Tao, Ren Wangsheng, Zeng Hang, Wang Dachun, Wu Xianyu, Xu Guo", "reference": { "type": "PubMed", "id": "39187936", "url": "https://pubmed.ncbi.nlm.nih.gov/39187936" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P29034-1", "protein_name": "Protein S100-A2", "gene_name": "S100A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05549-1", "protein_name": "Transcription factor AP-2-alpha", "gene_name": "TFAP2A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P29034", "url": "https://www.uniprot.org/uniprotkb/P29034" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.39187936", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", 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Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported." }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "FKRP autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "LGMD-FKRP related", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "LGMD2I", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "MDDGC5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP", "description": "" }, 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Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported." }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "FKRP autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "LGMD-FKRP related", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "LGMD2I", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "MDDGC5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "limb-girdle muscular dystrophy due to FKRP deficiency", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "limb-girdle muscular dystrophy type 2I", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5", "description": "" }, { "id": "MIM:607155", "resource": "MIM", "url": "https://www.omim.org/entry/607155", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C5", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011787", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787" }, { "id": "607155", "database": "MIM", "url": "https://www.omim.org/entry/607155" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "79147", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79147#disease" }, { "id": "0110299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110299" } ] }, { "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:0111241", "recommended_name": { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "congenital muscular dystrophy-dystroglycanopathy type A5", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32." }, "synonyms": [ { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5", "description": "" }, { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "MDDGA5", "description": "" }, { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscle-eye-brain-FKRP related", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "MDDGA5", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5", "description": "" }, { "id": "MIM:613153", "resource": "MIM", "url": "https://www.omim.org/entry/613153", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5" } ], "unlinked_id_list": [], "evidence": [ { "id": "613153", "database": "MIM", "url": "https://www.omim.org/entry/613153" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "0111241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111241" } ] }, { "disease_id": "DOID:0110635", "recommended_name": { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy type B5", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." }, "synonyms": [ { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "FKRP-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "MDC1C", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "MDDGB5", 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"https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0110299", "recommended_name": { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "autosomal recessive limb-girdle muscular dystrophy type 2I", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3." }, "synonyms": [ { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "LGMD2I", "description": "" }, { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "MDDGC5", "description": "" }, { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "muscular dystrophy limb-girdle type 2I", "description": "" }, { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related", "description": "" }, { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "Limb-girdle muscular dystrophy due to FKRP deficiency", "description": "" }, { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "autosomal recessive limb-girdle muscular dystrophy type 2I", "description": "A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported." }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "FKRP autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "LGMD-FKRP related", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "LGMD2I", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "MDDGC5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "limb-girdle muscular dystrophy due to FKRP deficiency", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "limb-girdle muscular dystrophy type 2I", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5", "description": "" }, { "id": "MIM:607155", "resource": "MIM", "url": "https://www.omim.org/entry/607155", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C5", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011787", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787" }, { "id": "607155", "database": "MIM", "url": "https://www.omim.org/entry/607155" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "79147", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79147#disease" }, { "id": "0110299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110299" } ] }, { "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:0111241", "recommended_name": { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "congenital muscular dystrophy-dystroglycanopathy type A5", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32." }, "synonyms": [ { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5", "description": "" }, { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "MDDGA5", "description": "" }, { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscle-eye-brain-FKRP related", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "MDDGA5", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5", "description": "" }, { "id": "MIM:613153", "resource": "MIM", "url": "https://www.omim.org/entry/613153", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5" } ], "unlinked_id_list": [], "evidence": [ { "id": "613153", "database": "MIM", "url": "https://www.omim.org/entry/613153" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "0111241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111241" } ] }, { "disease_id": "DOID:0110635", "recommended_name": { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy type B5", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." }, "synonyms": [ { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "FKRP-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "MDC1C", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "MDDGB5", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "congenital muscular dystrophy 1C", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy type B5", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "MDC1C", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "MDDGB5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "congenital muscular dystrophy-FKRP related", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5", "description": "" }, { "id": "MIM:606612", "resource": "MIM", "url": "https://www.omim.org/entry/606612", "name": "Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5", "description": "Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011688", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688" }, { "id": "606612", "database": "MIM", "url": "https://www.omim.org/entry/606612" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "79147", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79147#disease" }, { "id": "0110635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110635" } ] }, { "disease_id": "DOID:0111207", "recommended_name": { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "autosomal dominant distal hereditary motor neuronopathy 3", "description": "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23." }, "synonyms": [ { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "HMN IIB", "description": "" }, { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "HMN2B", "description": "" }, { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "distal hereditary motor neuropathy type IIB", "description": "" }, { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "distal hereditary motor neuronopathy type 2B", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "neuronopathy, distal hereditary motor, type 2B", "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene." }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "HSPB1 neuronopathy, distal hereditary motor", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "neuronopathy, distal hereditary motor caused by mutation in HSPB1", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": 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Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported." }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "FKRP autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "LGMD-FKRP related", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "LGMD2I", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "MDDGC5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "limb-girdle muscular dystrophy due to FKRP deficiency", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "limb-girdle muscular dystrophy type 2I", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5", "description": "" }, { "id": "MIM:607155", "resource": "MIM", "url": "https://www.omim.org/entry/607155", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C5", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011787", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787" }, { "id": "607155", "database": "MIM", "url": "https://www.omim.org/entry/607155" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "79147", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79147#disease" }, { "id": "0110299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110299" } ] }, { "disease_id": "DOID:0111241", "recommended_name": { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "congenital muscular dystrophy-dystroglycanopathy type A5", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32." }, "synonyms": [ { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5", "description": "" }, { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "MDDGA5", "description": "" }, { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscle-eye-brain-FKRP related", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "MDDGA5", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5", "description": "" }, { "id": "MIM:613153", "resource": "MIM", "url": "https://www.omim.org/entry/613153", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5" } ], "unlinked_id_list": [], "evidence": [ { "id": "613153", "database": "MIM", "url": "https://www.omim.org/entry/613153" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "0111241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111241" } ] }, { "disease_id": "DOID:0110635", "recommended_name": { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy type B5", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." }, "synonyms": [ { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "FKRP-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "MDC1C", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "MDDGB5", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "congenital muscular dystrophy 1C", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy type B5", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "MDC1C", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "MDDGB5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "congenital muscular dystrophy-FKRP related", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": 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"Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "79147", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79147#disease" }, { "id": "0110635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110635" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q9H9S5-1" } ], "record_id": "pubmed.14652796", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", 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Biochem.", "date": "2004", "authors": "Matsumoto Hiroshi, Noguchi Satoru, Sugie Kazuma, Ogawa Megumu, Murayama Kumiko, Hayashi Yukiko K, Nishino Ichizo", "reference": { "type": "PubMed", "id": "15213246", "url": "https://pubmed.ncbi.nlm.nih.gov/15213246" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H9S5-1", "protein_name": "Ribitol 5-phosphate transferase FKRP", "gene_name": "FKRP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H9S5", "url": "https://www.uniprot.org/uniprotkb/Q9H9S5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15213246", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", 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"https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0110299", "recommended_name": { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "autosomal recessive limb-girdle muscular dystrophy type 2I", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3." }, "synonyms": [ { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "LGMD2I", "description": "" }, { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "MDDGC5", "description": "" }, { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "muscular dystrophy limb-girdle type 2I", "description": "" }, { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related", "description": "" }, { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "Limb-girdle muscular dystrophy due to FKRP deficiency", "description": "" }, { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "autosomal recessive limb-girdle muscular dystrophy type 2I", "description": "A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported." }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "FKRP autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "LGMD-FKRP related", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "LGMD2I", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "MDDGC5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "limb-girdle muscular dystrophy due to FKRP deficiency", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "limb-girdle muscular dystrophy type 2I", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5", "description": "" }, { "id": "MIM:607155", "resource": "MIM", "url": "https://www.omim.org/entry/607155", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C5", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011787", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787" }, { "id": "607155", "database": "MIM", "url": "https://www.omim.org/entry/607155" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "79147", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79147#disease" }, { "id": "0110299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110299" } ] }, { "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:0111241", "recommended_name": { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "congenital muscular dystrophy-dystroglycanopathy type A5", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32." }, "synonyms": [ { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5", "description": "" }, { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "MDDGA5", "description": "" }, { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscle-eye-brain-FKRP related", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "MDDGA5", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5", "description": "" }, { "id": "MIM:613153", "resource": "MIM", "url": "https://www.omim.org/entry/613153", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5" } ], "unlinked_id_list": [], "evidence": [ { "id": "613153", "database": "MIM", "url": "https://www.omim.org/entry/613153" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "0111241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111241" } ] }, { "disease_id": "DOID:0110635", "recommended_name": { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy type B5", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." }, "synonyms": [ { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "FKRP-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "MDC1C", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "MDDGB5", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "congenital muscular dystrophy 1C", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy type B5", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "MDC1C", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "MDDGB5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "congenital muscular dystrophy-FKRP related", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5", "description": "" }, { "id": "MIM:606612", "resource": "MIM", "url": "https://www.omim.org/entry/606612", "name": "Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5", "description": "Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011688", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688" }, { "id": "606612", "database": "MIM", "url": "https://www.omim.org/entry/606612" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "79147", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79147#disease" }, { "id": "0110635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110635" } ] }, { "disease_id": "DOID:0111207", "recommended_name": { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "autosomal dominant distal hereditary motor neuronopathy 3", "description": "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23." }, "synonyms": [ { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "HMN IIB", "description": "" }, { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "HMN2B", "description": "" }, { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "distal hereditary motor neuropathy type IIB", "description": "" }, { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "distal hereditary motor neuronopathy type 2B", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "neuronopathy, distal hereditary motor, type 2B", "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene." }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "HSPB1 neuronopathy, distal hereditary motor", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "neuronopathy, distal hereditary motor caused by mutation in HSPB1", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": 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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. 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Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5", "description": "" }, { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "MDDGA5", "description": "" }, { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscle-eye-brain-FKRP related", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": 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dystrophy-dystroglycanopathy (limb-girdle) type C 5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "autosomal recessive limb-girdle muscular dystrophy type 2I", "description": "A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported." }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "FKRP autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "LGMD-FKRP related", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "LGMD2I", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "MDDGC5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "limb-girdle muscular dystrophy due to FKRP deficiency", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "limb-girdle muscular dystrophy type 2I", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5", "description": "" }, { "id": "MIM:607155", "resource": "MIM", "url": "https://www.omim.org/entry/607155", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C5", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011787", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787" }, { "id": "607155", "database": "MIM", "url": "https://www.omim.org/entry/607155" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "79147", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79147#disease" }, { "id": "0110299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110299" } ] }, { "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:0111241", "recommended_name": { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "congenital muscular dystrophy-dystroglycanopathy type A5", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32." }, "synonyms": [ { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5", "description": "" }, { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "MDDGA5", "description": "" }, { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscle-eye-brain-FKRP related", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "MDDGA5", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5", "description": "" }, { "id": "MIM:613153", "resource": "MIM", "url": "https://www.omim.org/entry/613153", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5" } ], "unlinked_id_list": [], "evidence": [ { "id": "613153", "database": "MIM", "url": "https://www.omim.org/entry/613153" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "0111241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111241" } ] }, { "disease_id": "DOID:0110635", "recommended_name": { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy type B5", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." }, "synonyms": [ { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "FKRP-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "MDC1C", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "MDDGB5", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "congenital muscular dystrophy 1C", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy type B5", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "MDC1C", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "MDDGB5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "congenital muscular dystrophy-FKRP related", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5", "description": "" }, { "id": "MIM:606612", "resource": "MIM", "url": "https://www.omim.org/entry/606612", "name": "Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5", "description": "Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011688", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688" }, { "id": "606612", "database": "MIM", "url": "https://www.omim.org/entry/606612" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "79147", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79147#disease" }, { "id": "0110635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110635" } ] }, { "disease_id": "DOID:0111207", "recommended_name": { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "autosomal dominant distal hereditary motor neuronopathy 3", "description": "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23." }, "synonyms": [ { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "HMN IIB", "description": "" }, { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "HMN2B", "description": "" }, { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "distal hereditary motor neuropathy type IIB", "description": "" }, { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "distal hereditary motor neuronopathy type 2B", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "neuronopathy, distal hereditary motor, type 2B", "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene." }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "HSPB1 neuronopathy, distal hereditary motor", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "neuronopathy, distal hereditary motor caused by mutation in HSPB1", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "HMN2B", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "neuronopathy, distal hereditary motor, type IIB", "description": "" }, { "id": "MIM:608634", "resource": "MIM", "url": "https://www.omim.org/entry/608634", "name": "Neuronopathy, distal hereditary motor, autosomal dominant 3", "description": "Neuronopathy, distal hereditary motor, autosomal dominant 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "608634", "database": "MIM", "url": "https://www.omim.org/entry/608634" }, { "id": "0111207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111207" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.01.000.000", "uniprot_canonical_ac": "Q9H9S5-1" } ], "record_id": "pubmed.16634037", "abstract": "", 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Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported." }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "FKRP autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "LGMD-FKRP related", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "LGMD2I", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "MDDGC5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "limb-girdle muscular dystrophy due to FKRP deficiency", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "limb-girdle muscular dystrophy type 2I", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5", "description": "" }, { "id": "MIM:607155", "resource": "MIM", "url": "https://www.omim.org/entry/607155", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C5", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011787", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787" }, { "id": "607155", "database": "MIM", "url": "https://www.omim.org/entry/607155" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "79147", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79147#disease" }, { "id": "0110299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110299" } ] }, { "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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"recommended_name": { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy type B5", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." }, "synonyms": [ { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "FKRP-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "MDC1C", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "MDDGB5", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "congenital muscular dystrophy 1C", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy type B5", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "MDC1C", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "MDDGB5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "congenital muscular dystrophy-FKRP related", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": 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"https://disease-ontology.org/term/DOID:0110299", "name": "Limb-girdle muscular dystrophy due to FKRP deficiency", "description": "" }, { "id": "DOID:0110299", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110299", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "autosomal recessive limb-girdle muscular dystrophy type 2I", "description": "A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported." }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "FKRP autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "LGMD-FKRP related", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "LGMD2I", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "MDDGC5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "limb-girdle muscular dystrophy due to FKRP deficiency", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C5", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "limb-girdle muscular dystrophy type 2I", "description": "" }, { "id": "MONDO:0011787", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5", "description": "" }, { "id": "MIM:607155", "resource": "MIM", "url": "https://www.omim.org/entry/607155", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C5", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011787", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011787" }, { "id": "607155", "database": "MIM", "url": "https://www.omim.org/entry/607155" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "79147", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79147#disease" }, { "id": "0110299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110299" } ] }, { "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:0111241", "recommended_name": { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "congenital muscular dystrophy-dystroglycanopathy type A5", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32." }, "synonyms": [ { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5", "description": "" }, { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "MDDGA5", "description": "" }, { "id": "DOID:0111241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111241", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscle-eye-brain-FKRP related", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "MDDGA5", "description": "" }, { "id": "MONDO:0013157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013157", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5", "description": "" }, { "id": "MIM:613153", "resource": "MIM", "url": "https://www.omim.org/entry/613153", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5" } ], "unlinked_id_list": [], "evidence": [ { "id": "613153", "database": "MIM", "url": "https://www.omim.org/entry/613153" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "0111241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111241" } ] }, { "disease_id": "DOID:0110635", "recommended_name": { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy type B5", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." }, "synonyms": [ { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "FKRP-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "MDC1C", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "MDDGB5", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "congenital muscular dystrophy 1C", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5", "description": "" }, { "id": "DOID:0110635", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110635", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy type B5", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "MDC1C", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "MDDGB5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "congenital muscular dystrophy-FKRP related", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5", "description": "" }, { "id": "MONDO:0011688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688", "name": "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5", "description": "" }, { "id": "MIM:606612", "resource": "MIM", "url": "https://www.omim.org/entry/606612", "name": "Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5", "description": "Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011688", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011688" }, { "id": "606612", "database": "MIM", "url": "https://www.omim.org/entry/606612" }, { "id": "FKRP", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details" }, { "id": "79147", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79147#disease" }, { "id": "0110635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110635" } ] }, { "disease_id": "DOID:0111207", "recommended_name": { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "autosomal dominant distal hereditary motor neuronopathy 3", "description": "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23." }, "synonyms": [ { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "HMN IIB", "description": "" }, { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "HMN2B", "description": "" }, { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "distal hereditary motor neuropathy type IIB", "description": "" }, { "id": "DOID:0111207", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111207", "name": "distal hereditary motor neuronopathy type 2B", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "neuronopathy, distal hereditary motor, type 2B", "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene." }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "HSPB1 neuronopathy, distal hereditary motor", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "neuronopathy, distal hereditary motor caused by mutation in HSPB1", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "HMN2B", "description": "" }, { "id": "MONDO:0012080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012080", "name": "neuronopathy, distal hereditary motor, type IIB", "description": "" }, { "id": "MIM:608634", "resource": "MIM", "url": "https://www.omim.org/entry/608634", "name": "Neuronopathy, distal hereditary motor, autosomal dominant 3", "description": "Neuronopathy, distal hereditary motor, autosomal dominant 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "608634", "database": "MIM", "url": "https://www.omim.org/entry/608634" }, { "id": "0111207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111207" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.01.000.000", "uniprot_canonical_ac": "Q9H9S5-1" } ], "record_id": "pubmed.22981120", "abstract": "", 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Chem.", "date": "1995", "authors": "Gessner J E, Grussenmeyer T, Kolanus W, Schmidt R E", "reference": { "type": "PubMed", "id": "7836402", "url": "https://pubmed.ncbi.nlm.nih.gov/7836402" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75015-1", "protein_name": "Low affinity immunoglobulin gamma Fc region receptor III-B", "gene_name": "FCGR3B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08637-1", "protein_name": "Low affinity immunoglobulin gamma Fc region receptor III-A", "gene_name": "FCGR3A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75015", "url": "https://www.uniprot.org/uniprotkb/O75015" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7836402", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "BRCA1-associated protein 1 (BAP1) deubiquitinase antagonizes the ubiquitin-mediated activation of FoxK2 target genes.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Okino Y, Machida Y, Frankland-Searby S, Machida YJ", "reference": { "type": "PubMed", "id": "25451922", "url": "https://pubmed.ncbi.nlm.nih.gov/25451922" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P85037-1", "protein_name": "Forkhead box protein K1", "gene_name": "FOXK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92560-1", "protein_name": "Ubiquitin carboxyl-terminal hydrolase BAP1", "gene_name": "BAP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01167-1", "protein_name": "Forkhead box protein K2", "gene_name": "FOXK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P85037", "url": "https://www.uniprot.org/uniprotkb/P85037" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 127, "end_pos": 127, "sequence_org": "R", "sequence_mut": "A", "comment": "Reduced interaction with BAP1.", "evidence": [ { "database": "UniProtKB", "id": "P85037", "url": "https://www.uniprot.org/uniprotkb/P85037" }, { "database": "PubMed", "id": "25451922", "url": "https://pubmed.ncbi.nlm.nih.gov/25451922" } ], "uniprot_canonical_ac": "P85037-1" }, { "start_pos": 363, "end_pos": 366, "sequence_org": "NHNY", "sequence_mut": "AAAA", "comment": "Abolishes interaction with HCFC1 without affecting interaction with FOXK1 and FOXK2.", "evidence": [ { "database": "UniProtKB", "id": "Q92560", "url": "https://www.uniprot.org/uniprotkb/Q92560" }, { "database": "PubMed", "id": "19188440", "url": "https://pubmed.ncbi.nlm.nih.gov/19188440" }, { "database": "PubMed", "id": "25451922", "url": "https://pubmed.ncbi.nlm.nih.gov/25451922" }, { "database": "PubMed", "id": "19815555", "url": "https://pubmed.ncbi.nlm.nih.gov/19815555" } ], "uniprot_canonical_ac": "Q92560-1" }, { "start_pos": 489, "end_pos": 489, "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect interaction with FOXK1 and FOXK2.", "evidence": [ { "database": "UniProtKB", "id": "Q92560", "url": "https://www.uniprot.org/uniprotkb/Q92560" }, { "database": "PubMed", "id": "25451922", "url": "https://pubmed.ncbi.nlm.nih.gov/25451922" } ], "uniprot_canonical_ac": "Q92560-1" }, { "start_pos": 492, "end_pos": 492, "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect interaction with FOXK1 and FOXK2.", "evidence": [ { "database": "UniProtKB", "id": "Q92560", "url": "https://www.uniprot.org/uniprotkb/Q92560" }, { "database": "PubMed", "id": "25451922", "url": "https://pubmed.ncbi.nlm.nih.gov/25451922" } ], "uniprot_canonical_ac": "Q92560-1" }, { "start_pos": 493, "end_pos": 493, "sequence_org": "T", "sequence_mut": "A", "comment": "Abolished interaction with FOXK1 and FOXK2.", "evidence": [ { "database": "UniProtKB", "id": "Q92560", "url": "https://www.uniprot.org/uniprotkb/Q92560" }, { "database": "PubMed", "id": "25451922", "url": "https://pubmed.ncbi.nlm.nih.gov/25451922" } ], "uniprot_canonical_ac": "Q92560-1" }, { "start_pos": 493, "end_pos": 493, "sequence_org": "T", "sequence_mut": "L", "comment": "Abolished interaction with FOXK1 and FOXK2.", "evidence": [ { "database": "UniProtKB", "id": "Q92560", "url": "https://www.uniprot.org/uniprotkb/Q92560" }, { "database": "PubMed", "id": "25451922", "url": "https://pubmed.ncbi.nlm.nih.gov/25451922" } ], "uniprot_canonical_ac": "Q92560-1" }, { "start_pos": 495, "end_pos": 495, "sequence_org": "T", "sequence_mut": "A", "comment": "Does not affect interaction with FOXK1 and FOXK2.", "evidence": [ { "database": "UniProtKB", "id": "Q92560", "url": "https://www.uniprot.org/uniprotkb/Q92560" }, { "database": "PubMed", "id": "25451922", "url": "https://pubmed.ncbi.nlm.nih.gov/25451922" } ], "uniprot_canonical_ac": "Q92560-1" } ], "phosphorylation": [ { "start_pos": 493, "end_pos": 493, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q92560", "url": "https://www.uniprot.org/uniprotkb/Q92560" }, { "database": "PubMed", "id": "25451922", "url": "https://pubmed.ncbi.nlm.nih.gov/25451922" }, { "database": "iPTMnet", "id": "Q92560", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92560" } ], "site_lbl": "Thr493", "uniprot_canonical_ac": "Q92560-1" } ], "record_id": "pubmed.25451922", "abstract": "", "glycosylation": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "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": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "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 }, { "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": "FOXKs promote Wnt/beta-catenin signaling by translocating DVL into the nucleus.", "journal": "Developmental cell", "date": "2015", "authors": "Wang W, Li X, Lee M, Jun S, Aziz KE, Feng L, Tran MK, Li N, McCrea PD, Park JI, Chen J", "reference": { "type": "PubMed", "id": "25805136", "url": "https://pubmed.ncbi.nlm.nih.gov/25805136" }, "referenced_glycans": [], 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No effect on interaction with DVL2.", "evidence": [ { "database": "UniProtKB", "id": "P85037", "url": "https://www.uniprot.org/uniprotkb/P85037" }, { "database": "PubMed", "id": "25805136", "url": "https://pubmed.ncbi.nlm.nih.gov/25805136" }, { "database": "PubMed", "id": "17670796", "url": "https://pubmed.ncbi.nlm.nih.gov/17670796" } ], "uniprot_canonical_ac": "P85037-1" }, { "start_pos": 250, "end_pos": 250, "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on interaction with FOXK2.", "evidence": [ { "database": "UniProtKB", "id": "O14641", "url": "https://www.uniprot.org/uniprotkb/O14641" }, { "database": "PubMed", "id": "25805136", "url": "https://pubmed.ncbi.nlm.nih.gov/25805136" } ], "uniprot_canonical_ac": "O14641-1" }, { "start_pos": 250, "end_pos": 252, "sequence_org": "TSS", "sequence_mut": "AAA", "comment": "Almost abolishes interaction with FOXK2.", "evidence": [ { "database": "UniProtKB", "id": "O14641", "url": "https://www.uniprot.org/uniprotkb/O14641" }, { 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FOXK2.", "evidence": [ { "database": "UniProtKB", "id": "O14641", "url": "https://www.uniprot.org/uniprotkb/O14641" }, { "database": "PubMed", "id": "25805136", "url": "https://pubmed.ncbi.nlm.nih.gov/25805136" } ], "uniprot_canonical_ac": "O14641-1" }, { "start_pos": 254, "end_pos": 257, "sequence_org": "SSVT", "sequence_mut": "AAVA", "comment": "Almost abolishes interaction with FOXK2.", "evidence": [ { "database": "UniProtKB", "id": "O14641", "url": "https://www.uniprot.org/uniprotkb/O14641" }, { "database": "PubMed", "id": "25805136", "url": "https://pubmed.ncbi.nlm.nih.gov/25805136" } ], "uniprot_canonical_ac": "O14641-1" }, { "start_pos": 255, "end_pos": 255, "sequence_org": "S", "sequence_mut": "A", "comment": "Almost abolishes interaction with FOXK2.", "evidence": [ { "database": "UniProtKB", "id": "O14641", "url": "https://www.uniprot.org/uniprotkb/O14641" }, { "database": "PubMed", "id": "25805136", "url": "https://pubmed.ncbi.nlm.nih.gov/25805136" } ], 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}, { "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 transcription factor FoxK participates with Nup98 to regulate antiviral gene expression.", "journal": "mBio", "date": "2015-04-07", "authors": "Panda Debasis, Gold Beth, Tartell Michael A, Rausch Keiko, Casas-Tinto Sergio, Cherry 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], "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": "FOXK1 regulates malignant progression and radiosensitivity through direct transcriptional activation of CDC25A and CDK4 in esophageal squamous cell carcinoma.", "journal": "Scientific reports", "date": "2023-05-12", "authors": "Li Xiaoxu, Lu Juntao, Liu Lei, Li Fei, Xu Tongxin, Chen Liying, Yan Zhaoyang, Li Yan, Guo Wei", "reference": { "type": "PubMed", "id": "37173384", "url": "https://pubmed.ncbi.nlm.nih.gov/37173384" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": 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NH2-terminal amino acid sequence and glycosylation variants.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Behrendt N, Ronne E, Ploug M, Petri T, Lober D, Nielsen LS, Schleuning WD, Blasi F, Appella E, Dano K", "reference": { "type": "PubMed", "id": "2156852", "url": "https://pubmed.ncbi.nlm.nih.gov/2156852" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P07093-1", "protein_name": "Glia-derived nexin", "gene_name": "SERPINE2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P50452-1", "protein_name": "Serpin B8", "gene_name": "SERPINB8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35237-1", "protein_name": "Serpin B6", "gene_name": "SERPINB6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03405-1", "protein_name": "Urokinase plasminogen activator surface receptor", "gene_name": "PLAUR", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07355-1", "protein_name": "Annexin A2", "gene_name": "ANXA2", 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plasminogen activator has catalytic activity: studies with a mutant enzyme that lacks the cleavage site.", "journal": "Biochemistry", "date": "1989", "authors": "Boose JA, Kuismanen E, Gerard R, Sambrook J, Gething MJ", "reference": { "type": "PubMed", "id": "2496749", "url": "https://pubmed.ncbi.nlm.nih.gov/2496749" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P07093-1", "protein_name": "Glia-derived nexin", "gene_name": "SERPINE2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P50452-1", "protein_name": "Serpin B8", "gene_name": "SERPINB8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35237-1", "protein_name": "Serpin B6", "gene_name": "SERPINB6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03405-1", "protein_name": "Urokinase plasminogen activator surface receptor", "gene_name": "PLAUR", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07355-1", "protein_name": "Annexin A2", "gene_name": "ANXA2", "tax_name": "Human" }, { 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"protein_name": "Dual specificity protein phosphatase 12", "gene_name": "DUSP12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16655-1", "protein_name": "Melanoma antigen recognized by T-cells 1", "gene_name": "MLANA", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07093", "url": "https://www.uniprot.org/uniprotkb/P07093" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24987109", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "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": "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 }, { "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": "Interaction between plasminogen activator inhibitor type 1 (PAI-1) bound to fibrin and either tissue-type plasminogen activator (t-PA) or urokinase-type plasminogen activator (u-PA). Binding of t-PA/PAI-1 complexes to fibrin mediated by both the finger and the kringle-2 domain of t-PA.", "journal": "The Journal of clinical investigation", "date": "1989", "authors": "Wagner OF, de Vries C, Hohmann C, Veerman H, Pannekoek H", "reference": { "type": "PubMed", "id": "2503541", "url": "https://pubmed.ncbi.nlm.nih.gov/2503541" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P07093-1", "protein_name": "Glia-derived nexin", "gene_name": "SERPINE2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P50452-1", "protein_name": "Serpin B8", "gene_name": "SERPINB8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35237-1", "protein_name": "Serpin B6", "gene_name": "SERPINB6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03405-1", "protein_name": "Urokinase plasminogen activator surface receptor", "gene_name": "PLAUR", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07355-1", "protein_name": "Annexin A2", "gene_name": "ANXA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P60903-1", "protein_name": "Protein S100-A10", "gene_name": "S100A10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00747-1", "protein_name": "Plasminogen", "gene_name": "PLG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05120-1", "protein_name": "Plasminogen activator inhibitor 2", "gene_name": "SERPINB2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04196-1", "protein_name": "Histidine-rich glycoprotein", "gene_name": "HRG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00750-1", "protein_name": "Tissue-type plasminogen activator", "gene_name": "PLAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00749-1", "protein_name": "Urokinase-type plasminogen activator", "gene_name": "PLAU", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08697-1", "protein_name": "Alpha-2-antiplasmin", "gene_name": "SERPINF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05121-1", "protein_name": "Plasminogen activator inhibitor 1", "gene_name": "SERPINE1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07093", "url": "https://www.uniprot.org/uniprotkb/P07093" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2503541", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 13 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "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": "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 }, { "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": "Plasminogen activation initiated by single-chain urokinase-type plasminogen activator. Potentiation by U937 monocytes.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Ellis V, Scully MF, Kakkar VV", "reference": { "type": "PubMed", "id": "2521625", "url": "https://pubmed.ncbi.nlm.nih.gov/2521625" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P07093-1", "protein_name": "Glia-derived nexin", "gene_name": "SERPINE2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P50452-1", "protein_name": "Serpin B8", "gene_name": "SERPINB8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35237-1", "protein_name": "Serpin B6", "gene_name": "SERPINB6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03405-1", "protein_name": "Urokinase plasminogen activator surface receptor", "gene_name": "PLAUR", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07355-1", "protein_name": "Annexin A2", "gene_name": "ANXA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P60903-1", "protein_name": "Protein S100-A10", "gene_name": "S100A10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00747-1", "protein_name": "Plasminogen", "gene_name": "PLG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05120-1", "protein_name": "Plasminogen activator inhibitor 2", "gene_name": "SERPINB2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04196-1", "protein_name": "Histidine-rich glycoprotein", "gene_name": "HRG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00750-1", "protein_name": "Tissue-type plasminogen activator", "gene_name": "PLAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00749-1", "protein_name": "Urokinase-type plasminogen activator", "gene_name": "PLAU", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08697-1", "protein_name": "Alpha-2-antiplasmin", "gene_name": "SERPINF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05121-1", "protein_name": "Plasminogen activator inhibitor 1", "gene_name": "SERPINE1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07093", "url": "https://www.uniprot.org/uniprotkb/P07093" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2521625", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 13 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "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": "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 }, { "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": "Accessibility of receptor-bound urokinase to type-1 plasminogen activator inhibitor.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1989", "authors": "Cubellis MV, Andreasen P, Ragno P, Mayer M, Dano K, Blasi F", "reference": { "type": "PubMed", "id": "2544876", "url": "https://pubmed.ncbi.nlm.nih.gov/2544876" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P07093-1", "protein_name": "Glia-derived nexin", "gene_name": "SERPINE2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P50452-1", "protein_name": "Serpin B8", "gene_name": "SERPINB8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35237-1", "protein_name": "Serpin B6", "gene_name": "SERPINB6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03405-1", "protein_name": "Urokinase plasminogen activator surface receptor", "gene_name": "PLAUR", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07355-1", "protein_name": "Annexin A2", "gene_name": "ANXA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P60903-1", "protein_name": "Protein S100-A10", "gene_name": "S100A10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00747-1", "protein_name": "Plasminogen", "gene_name": "PLG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05120-1", "protein_name": "Plasminogen activator inhibitor 2", "gene_name": "SERPINB2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04196-1", "protein_name": "Histidine-rich glycoprotein", "gene_name": "HRG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00750-1", "protein_name": "Tissue-type plasminogen activator", "gene_name": "PLAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00749-1", "protein_name": "Urokinase-type plasminogen activator", "gene_name": "PLAU", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08697-1", "protein_name": "Alpha-2-antiplasmin", "gene_name": "SERPINF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05121-1", "protein_name": "Plasminogen activator inhibitor 1", "gene_name": "SERPINE1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07093", "url": "https://www.uniprot.org/uniprotkb/P07093" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2544876", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 13 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "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": "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", 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"o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A glia-derived neurite promoting factor with protease inhibitory activity belongs to the protease nexins.", "journal": "Cell", "date": "1986", "authors": "Gloor S, Odink K, Guenther J, Nick H, Monard D", "reference": { "type": "PubMed", "id": "2877744", "url": "https://pubmed.ncbi.nlm.nih.gov/2877744" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P07093-1", "protein_name": "Glia-derived nexin", "gene_name": "SERPINE2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07093", "url": "https://www.uniprot.org/uniprotkb/P07093" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2877744", "abstract": "", "glycosylation": [], "mutagenesis": [], 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"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": "Activation of plasminogen by pro-urokinase. I. Mechanism.", "journal": "The Journal of biological chemistry", "date": "1986", "authors": "Lijnen HR, Zamarron C, Blaber M, Winkler ME, Collen D", "reference": { "type": "PubMed", "id": "2935528", "url": "https://pubmed.ncbi.nlm.nih.gov/2935528" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P07093-1", "protein_name": "Glia-derived nexin", "gene_name": "SERPINE2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P50452-1", "protein_name": "Serpin B8", "gene_name": "SERPINB8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35237-1", "protein_name": "Serpin B6", "gene_name": "SERPINB6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03405-1", "protein_name": "Urokinase plasminogen activator surface receptor", "gene_name": "PLAUR", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07355-1", "protein_name": "Annexin A2", "gene_name": "ANXA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P60903-1", "protein_name": "Protein S100-A10", "gene_name": "S100A10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00747-1", "protein_name": "Plasminogen", "gene_name": "PLG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05120-1", "protein_name": "Plasminogen activator inhibitor 2", "gene_name": "SERPINB2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04196-1", "protein_name": "Histidine-rich glycoprotein", "gene_name": "HRG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00750-1", "protein_name": "Tissue-type plasminogen activator", "gene_name": "PLAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00749-1", "protein_name": "Urokinase-type plasminogen activator", "gene_name": "PLAU", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08697-1", "protein_name": "Alpha-2-antiplasmin", "gene_name": "SERPINF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05121-1", "protein_name": "Plasminogen activator inhibitor 1", "gene_name": "SERPINE1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07093", "url": "https://www.uniprot.org/uniprotkb/P07093" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2935528", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 13 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "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": 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"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": [] } ] }, { "title": "Interaction of one-chain and two-chain tissue plasminogen activator with intact and plasmin-degraded fibrin.", "journal": "Biochemistry", "date": "1987", "authors": "Higgins DL, Vehar GA", "reference": { "type": "PubMed", "id": "2962641", "url": "https://pubmed.ncbi.nlm.nih.gov/2962641" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P07093-1", "protein_name": "Glia-derived nexin", "gene_name": "SERPINE2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P50452-1", "protein_name": "Serpin B8", "gene_name": "SERPINB8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35237-1", "protein_name": "Serpin B6", "gene_name": "SERPINB6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03405-1", "protein_name": "Urokinase plasminogen activator surface receptor", "gene_name": "PLAUR", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07355-1", "protein_name": "Annexin A2", "gene_name": "ANXA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P60903-1", "protein_name": "Protein S100-A10", "gene_name": "S100A10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00747-1", "protein_name": "Plasminogen", "gene_name": "PLG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05120-1", "protein_name": "Plasminogen activator inhibitor 2", "gene_name": "SERPINB2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04196-1", "protein_name": "Histidine-rich glycoprotein", "gene_name": "HRG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00750-1", "protein_name": "Tissue-type plasminogen activator", "gene_name": "PLAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00749-1", "protein_name": "Urokinase-type plasminogen activator", "gene_name": "PLAU", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08697-1", "protein_name": "Alpha-2-antiplasmin", "gene_name": "SERPINF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05121-1", "protein_name": "Plasminogen activator inhibitor 1", "gene_name": "SERPINE1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07093", "url": "https://www.uniprot.org/uniprotkb/P07093" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2962641", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 13 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "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": "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 }, { "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": "Amino acid sequence of human histidine-rich glycoprotein derived from the nucleotide sequence of its cDNA.", "journal": "Biochemistry", "date": "1986", "authors": "Koide T, Foster D, Yoshitake S, Davie EW", "reference": { "type": "PubMed", "id": "3011081", "url": "https://pubmed.ncbi.nlm.nih.gov/3011081" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P07093-1", "protein_name": "Glia-derived nexin", "gene_name": "SERPINE2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P50452-1", "protein_name": "Serpin B8", "gene_name": "SERPINB8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35237-1", "protein_name": "Serpin B6", "gene_name": "SERPINB6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03405-1", "protein_name": "Urokinase plasminogen activator surface receptor", "gene_name": "PLAUR", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07355-1", "protein_name": "Annexin A2", "gene_name": "ANXA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P60903-1", "protein_name": "Protein S100-A10", "gene_name": "S100A10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00747-1", "protein_name": "Plasminogen", "gene_name": "PLG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05120-1", "protein_name": "Plasminogen activator inhibitor 2", "gene_name": "SERPINB2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04196-1", "protein_name": "Histidine-rich glycoprotein", "gene_name": "HRG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00750-1", "protein_name": "Tissue-type plasminogen activator", "gene_name": "PLAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00749-1", "protein_name": "Urokinase-type plasminogen activator", "gene_name": "PLAU", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08697-1", "protein_name": "Alpha-2-antiplasmin", "gene_name": "SERPINF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05121-1", "protein_name": "Plasminogen activator inhibitor 1", "gene_name": "SERPINE1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07093", "url": "https://www.uniprot.org/uniprotkb/P07093" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3011081", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 13 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "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": "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": 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