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of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Sebastian S, Sreenivas P, Sambasivan R, Cheedipudi S, Kandalla P, Pavlath GK, Dhawan J", "reference": { "type": "PubMed", "id": "19264965", "url": "https://pubmed.ncbi.nlm.nih.gov/19264965" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8IZD2-1", "protein_name": "Histone reader KMT2E", "gene_name": "KMT2E", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q3UG20-1", "protein_name": "Histone reader KMT2E", "gene_name": "Kmt2e", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZD2", "url": "https://www.uniprot.org/uniprotkb/Q8IZD2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 411, "end_pos": 411, "sequence_org": "C", "sequence_mut": "A", "comment": "Fails to activate the cell cycle 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the PHD domain of human MLL5.", "journal": "PloS one", "date": "2013", "authors": "Lemak A, Yee A, Wu H, Yap D, Zeng H, Dombrovski L, Houliston S, Aparicio S, Arrowsmith CH", "reference": { "type": "PubMed", "id": "24130829", "url": "https://pubmed.ncbi.nlm.nih.gov/24130829" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8IZD2-1", "protein_name": "Histone reader KMT2E", "gene_name": "KMT2E", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZD2", "url": "https://www.uniprot.org/uniprotkb/Q8IZD2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24130829", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Riess A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH", "reference": { "type": "PubMed", "id": "31079897", "url": "https://pubmed.ncbi.nlm.nih.gov/31079897" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8IZD2-1", "protein_name": "Histone reader KMT2E", "gene_name": "KMT2E", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZD2", "url": "https://www.uniprot.org/uniprotkb/Q8IZD2" } ], "common_name": "Human", "glygen_name": "Human", 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[] } ] }, { "title": "POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C, Bruno C", "reference": { "type": "PubMed", "id": "17923109", "url": "https://pubmed.ncbi.nlm.nih.gov/17923109" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKY4-1", "protein_name": "Protein O-mannosyl-transferase 2", "gene_name": "POMT2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKY4", "url": "https://www.uniprot.org/uniprotkb/Q9UKY4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs267606971", "database": "dbSNP", "url": 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(limb-girdle) type C 1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "LGMD2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "MDDGC1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy limb-girdle type 2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD-POMT1 related", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "MDDGC1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "POMT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy - intellectual disability", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy type 2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", "description": "" }, { "id": "MIM:609308", "resource": "MIM", "url": "https://www.omim.org/entry/609308", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1" } ], "unlinked_id_list": [], "evidence": [ { "id": "609308", "database": "MIM", "url": "https://www.omim.org/entry/609308" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0110297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110297" } ] }, { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] }, { "disease_id": "DOID:0050588", "recommended_name": { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase." }, "synonyms": [ { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "CMD due to dystroglycanopathy", "description": "" }, { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050588" } ] }, { "disease_id": "DOID:0112375", "recommended_name": { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "muscular dystrophy-dystroglycanopathy type B", "description": "A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies." }, "synonyms": [ { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "MDDGB", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "613155", "database": "MIM", "url": "https://www.omim.org/entry/613155" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q9Y6A1-1" }, { "evidence": [ { "id": "rs119462983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119462983" }, { "id": "rs119462983", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119462983#frequency_tab" }, { "id": "rs119462983", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119462983" }, { "id": "11053679", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11053679" }, { "id": "16575835", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16575835" }, { "id": "19299310", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19299310" } ], "glycoeffect": [], "start_pos": 65, "end_pos": 65, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "131506184", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G65", "disease": [ { "disease_id": "DOID:0110297", "recommended_name": { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)." }, "synonyms": [ { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "LGMD2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "MDDGC1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy limb-girdle type 2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD-POMT1 related", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "MDDGC1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "POMT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy - intellectual disability", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy type 2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", "description": "" }, { "id": "MIM:609308", "resource": "MIM", "url": "https://www.omim.org/entry/609308", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1" } ], "unlinked_id_list": [], "evidence": [ { "id": "609308", "database": "MIM", "url": "https://www.omim.org/entry/609308" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0110297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110297" } ] }, { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] }, { "disease_id": "DOID:0050588", "recommended_name": { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase." }, "synonyms": [ { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "CMD due to dystroglycanopathy", "description": "" }, { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050588" } ] }, { "disease_id": "DOID:0112375", "recommended_name": { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "muscular dystrophy-dystroglycanopathy type B", "description": "A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies." }, "synonyms": [ { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "MDDGB", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.", "journal": "Neurology", "date": "2001-04-24", "authors": "Cormand B, Pihko H, Bay\u00e9s M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner H G, Voit T, Topaloglu H, Dobyns W B, Lehesjoki A E", "reference": { "type": "PubMed", "id": "11320179", "url": "https://pubmed.ncbi.nlm.nih.gov/11320179" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9Y6A1-1", "protein_name": "Protein O-mannosyl-transferase 1", "gene_name": "POMT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y6A1", "url": "https://www.uniprot.org/uniprotkb/Q9Y6A1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs119462981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119462981" }, { "id": "rs119462981", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119462981" }, { "id": "11320179", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11320179" }, { "id": "12369018", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12369018" } ], "glycoeffect": [], "start_pos": 303, "end_pos": 303, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "131510401", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q303", "disease": [ { "disease_id": "DOID:0110297", "recommended_name": { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)." }, "synonyms": [ { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "LGMD2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "MDDGC1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy limb-girdle type 2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD-POMT1 related", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "MDDGC1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "POMT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy - intellectual disability", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy type 2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", "description": "" }, { "id": "MIM:609308", "resource": "MIM", "url": "https://www.omim.org/entry/609308", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1" } ], "unlinked_id_list": [], "evidence": [ { "id": "609308", "database": "MIM", "url": "https://www.omim.org/entry/609308" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0110297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110297" } ] }, { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] }, { "disease_id": "DOID:0050588", "recommended_name": { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase." }, "synonyms": [ { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "CMD due to dystroglycanopathy", "description": "" }, { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": 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"id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy limb-girdle type 2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD-POMT1 related", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "MDDGC1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "POMT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy - intellectual disability", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy type 2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", "description": "" }, { "id": "MIM:609308", "resource": "MIM", "url": "https://www.omim.org/entry/609308", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1" } ], "unlinked_id_list": [], "evidence": [ { "id": "609308", "database": "MIM", "url": "https://www.omim.org/entry/609308" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0110297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110297" } ] }, { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] }, { "disease_id": "DOID:0050588", "recommended_name": { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase." }, "synonyms": [ { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "CMD due to dystroglycanopathy", "description": "" }, { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050588" } ] }, { "disease_id": "DOID:0112375", "recommended_name": { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "muscular dystrophy-dystroglycanopathy type B", "description": "A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies." }, "synonyms": [ { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "MDDGB", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "613155", "database": "MIM", "url": "https://www.omim.org/entry/613155" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q9Y6A1-1" } ], "record_id": "pubmed.15037715", "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", "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": "Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.", "journal": "American journal of medical genetics. Part A", "date": "2005", "authors": "Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA", "reference": { "type": "PubMed", "id": "15637732", "url": "https://pubmed.ncbi.nlm.nih.gov/15637732" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9Y6A1-1", "protein_name": "Protein O-mannosyl-transferase 1", "gene_name": "POMT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y6A1", "url": "https://www.uniprot.org/uniprotkb/Q9Y6A1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15637732", "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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"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": "Expanding the clinical spectrum of POMT1 phenotype.", "journal": "Neurology", "date": "2006", "authors": "D'Amico A, Tessa A, Bruno C, Petrini S, Biancheri R, Pane M, Pedemonte M, Ricci E, Falace A, Rossi A, Mercuri E, Santorelli FM, Bertini E", "reference": { "type": "PubMed", "id": "16717220", "url": "https://pubmed.ncbi.nlm.nih.gov/16717220" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9Y6A1-1", "protein_name": "Protein O-mannosyl-transferase 1", "gene_name": "POMT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y6A1", "url": "https://www.uniprot.org/uniprotkb/Q9Y6A1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "Q9Y6A1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y6A1" }, { "id": "rs119462987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119462987" }, { "id": "rs119462987", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119462987#frequency_tab" }, { "id": "rs119462987", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119462987" }, { "id": "16717220", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16717220" }, { "id": "22549409", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22549409" }, { "id": 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"name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:0110297", "recommended_name": { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)." }, "synonyms": [ { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "LGMD2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "MDDGC1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy limb-girdle type 2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD-POMT1 related", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "MDDGC1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "POMT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy - intellectual disability", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy type 2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", "description": "" }, { "id": "MIM:609308", "resource": "MIM", "url": "https://www.omim.org/entry/609308", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1" } ], "unlinked_id_list": [], "evidence": [ { "id": "609308", "database": "MIM", "url": "https://www.omim.org/entry/609308" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0110297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110297" } ] }, { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] }, { "disease_id": "DOID:0050588", "recommended_name": { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase." }, "synonyms": [ { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "CMD due to dystroglycanopathy", "description": "" }, { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050588" } ] }, { "disease_id": "DOID:0112375", "recommended_name": { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "muscular dystrophy-dystroglycanopathy type B", "description": "A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies." }, "synonyms": [ { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "MDDGB", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:0110297", "recommended_name": { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)." }, "synonyms": [ { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "LGMD2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "MDDGC1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy limb-girdle type 2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD-POMT1 related", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "MDDGC1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "POMT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy - intellectual disability", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy type 2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", "description": "" }, { "id": "MIM:609308", "resource": "MIM", "url": "https://www.omim.org/entry/609308", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1" } ], "unlinked_id_list": [], "evidence": [ { "id": "609308", "database": "MIM", "url": "https://www.omim.org/entry/609308" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0110297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110297" } ] }, { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. 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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 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"DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "CMD due to dystroglycanopathy", "description": "" }, { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050588" } ] }, { "disease_id": "DOID:0112375", "recommended_name": { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "muscular dystrophy-dystroglycanopathy type B", "description": "A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies." }, "synonyms": [ { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "MDDGB", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": 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Cell", "date": "2006", "authors": "Teplova Marianna, Yuan Yu-Ren, Phan Anh Tu\u00e2n, Malinina Lucy, Ilin Serge, Teplov Alexei, Patel Dinshaw J", "reference": { "type": "PubMed", "id": "16387655", "url": "https://pubmed.ncbi.nlm.nih.gov/16387655" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P05455-1", "protein_name": "Lupus La protein", "gene_name": "SSB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05455", "url": "https://www.uniprot.org/uniprotkb/P05455" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16387655", "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", 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Direct antigen presentation by DC shapes the functional CD8(+) T-cell repertoire against the nuclear self-antigen La-SSB.", "journal": "European journal of immunology", "date": "2010-02", "authors": "Keech Catherine L, Pang Ken C, McCluskey James, Chen Weisan", "reference": { "type": "PubMed", "id": "19950171", "url": "https://pubmed.ncbi.nlm.nih.gov/19950171" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P05455-1", "protein_name": "Lupus La protein", "gene_name": "SSB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P32067-1", "protein_name": "Lupus La protein homolog", "gene_name": "Ssb", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05455", "url": "https://www.uniprot.org/uniprotkb/P05455" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": 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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": "Characteristics and epitope mapping of a cloned human autoantigen La.", "journal": "J. Immunol.", "date": "1988", "authors": "Sturgess A D, Peterson M G, McNeilage L J, Whittingham S, Coppel R L", "reference": { "type": "PubMed", "id": "2452201", "url": "https://pubmed.ncbi.nlm.nih.gov/2452201" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P05455-1", "protein_name": "Lupus La protein", "gene_name": "SSB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05455", "url": "https://www.uniprot.org/uniprotkb/P05455" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2452201", "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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}, { "start_pos": 440, "end_pos": 440, "sequence_org": "R", "sequence_mut": "Q", "comment": "Does not affect targeting of RAC1 to the plasma membrane; when associated with N-322.", "evidence": [ { "database": "UniProtKB", "id": "Q99755", "url": "https://www.uniprot.org/uniprotkb/Q99755" }, { "database": "PubMed", "id": "20660631", "url": "https://pubmed.ncbi.nlm.nih.gov/20660631" } ], "uniprot_canonical_ac": "Q99755-1" } ], "record_id": "pubmed.20660631", "abstract": "", "glycosylation": [], "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", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": 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"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": 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], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 215, "end_pos": 215, "sequence_org": "L", "sequence_mut": "I", "comment": "Decreased 1-phosphatidylinositol-4-phosphate 5-kinase activity with 1-octadecanoyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phospho-1D-myo-inositol 4-phosphate (arachidonate-PtdIns4P) as substrate. Increased enzyme activation by diarachidonoyl phosphatidic acid (DAPA). 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"database": "UniProtKB", "id": "P52429", "url": "https://www.uniprot.org/uniprotkb/P52429" }, { "database": "PubMed", "id": "21477596", "url": "https://pubmed.ncbi.nlm.nih.gov/21477596" } ], "uniprot_canonical_ac": "P52429-1" }, { "start_pos": 438, "end_pos": 438, "sequence_org": "L", "sequence_mut": "S", "comment": "Loss of diacylglycerol kinase activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol.", "evidence": [ { "database": "UniProtKB", "id": "P52429", "url": "https://www.uniprot.org/uniprotkb/P52429" }, { "database": "PubMed", "id": "21477596", "url": "https://pubmed.ncbi.nlm.nih.gov/21477596" } ], "uniprot_canonical_ac": "P52429-1" }, { "start_pos": 439, "end_pos": 439, "sequence_org": "P", "sequence_mut": "G", "comment": "Decreased diacylglycerol kinase activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol.", "evidence": [ { "database": "UniProtKB", "id": "P52429", "url": "https://www.uniprot.org/uniprotkb/P52429" }, { 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