{ "uniprot_canonical_ac": "P12883-1", "uniprot_ac": "P12883", "uniprot_id": "MYH7_HUMAN", "mass": { "chemical_mass": 223097.0, "monoisotopic_mass": 223097.0 }, "refseq": { "ac": "NP_000248", "name": "myosin-7", "summary": "Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing distal myopathy. [provided by RefSeq, May 2022].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000248" }, "gene_names": [ { "name": "MYH7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12883", "id": "P12883" }, { "name": "CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB; SPMD; SPMM", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000248", "id": "NP_000248" }, { "name": "MYH7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000248", "id": "NP_000248" }, { "name": "MYHCB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12883", "id": "P12883" } ], "protein_names": [ { "name": "Myosin-7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12883" }, { "name": "MyHC-beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12883" }, { "name": "MyHC-slow", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12883" }, { "name": "Myosin heavy chain 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12883" }, { "name": "Myosin heavy chain slow isoform", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12883" }, { "name": "Myosin heavy chain, cardiac muscle beta isoform", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12883" }, { "name": "myosin, heavy polypeptide 7, cardiac muscle, beta; myhc-slow; cardiac muscle myosin heavy chain 7 beta; rhabdomyosarcoma antigen MU-RMS-40.7A; myHC-beta; myosin 7; myosin, heavy chain 7, cardiac muscle, beta; myosin heavy chain beta-subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000248", "id": "NP_000248" }, { "name": "myosin-7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000248", "id": "NP_000248" } ], "function": [ { "annotation": "A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000248" }, { "database": "PubMed", "id": "37794383", "url": "https://glygen.org/publication/PubMed/37794383" } ] }, { "annotation": "Enhanced myofilament calcium sensitivity aggravates abnormal calcium handling and diastolic dysfunction in patient-specific induced pluripotent stem cell-derived cardiomyocytes with MYH7 mutation.", "evidence": [ { "database": "RefSeq", "id": "NP_000248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000248" }, { "database": "PubMed", "id": "38101154", "url": "https://glygen.org/publication/PubMed/38101154" } ] }, { "annotation": "Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing distal myopathy. [provided by RefSeq, May 2022].", "evidence": [ { "database": "RefSeq", "id": "NP_000248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000248" } ] }, { "annotation": "Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac muscle.", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883#function" }, { "database": "PubMed", "id": "26150528", "url": "https://glygen.org/publication/PubMed/26150528" }, { "database": "PubMed", "id": "26246073", "url": "https://glygen.org/publication/PubMed/26246073" } ] }, { "annotation": "[Clinical phenotype and genetic analysis of patients with left ventricular noncompaction caused by the biallelic mutation of MYBPC3 and MYH7].", "evidence": [ { "database": "RefSeq", "id": "NP_000248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000248" }, { "database": "PubMed", "id": "37963751", "url": "https://glygen.org/publication/PubMed/37963751" } ] } ], "disease": [ { "disease_id": "DOID:0070197", "recommended_name": { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "distal myopathy 1", "description": "A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2." }, "synonyms": [ { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "Distal myopathy type 1", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "Gowers disease", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "Laing distal myopathy", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "Laing early-onset distal myopathy", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "MPD1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Gowers disease", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing early-onset distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MPD1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "distal myopathy type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, early-onset, autosomal dominant", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, late distal hereditary", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myosin storage myopathy", "description": "" }, { "id": "MIM:160500", "resource": "MIM", "url": "https://www.omim.org/entry/160500", "name": "Myopathy, distal, 1", "description": "Myopathy, distal, 1" } ], "evidence": [ { "id": "160500", "database": "MIM", "url": "https://www.omim.org/entry/160500" } ] }, { "disease_id": "DOID:0080326", "recommended_name": { "id": "DOID:0080326", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080326", "name": "familial hypertrophic cardiomyopathy", "description": "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations." }, "synonyms": [ { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ], "evidence": [ { "id": "192600", "database": "MIM", "url": "https://www.omim.org/entry/192600" } ] }, { "disease_id": "DOID:0110307", "recommended_name": { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 1", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "CMH1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 19", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ], "evidence": [ { "id": "192600", "database": "MIM", "url": "https://www.omim.org/entry/192600" } ] }, { "disease_id": "DOID:0110454", "recommended_name": { "id": "DOID:0110454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110454", "name": "dilated cardiomyopathy 1S", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110454", "name": "CMD1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy 1S", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "CMD1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "MYH7 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "cardiomyopathy, dilated, type 1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy type 1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "familial isolated dilated cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "cardiomyopathy, dilated, 1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy-1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "left ventricular noncompaction 5", "description": "" }, { "id": "MIM:613426", "resource": "MIM", "url": "https://www.omim.org/entry/613426", "name": "Cardiomyopathy, dilated, 1S", "description": "Cardiomyopathy, dilated, 1S" } ], "evidence": [ { "id": "613426", "database": "MIM", "url": "https://www.omim.org/entry/613426" } ] }, { "disease_id": "DOID:0111268", "recommended_name": { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111268", "name": "autosomal recessive hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2." }, "synonyms": [ { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111268", "name": "MSMB", "description": "" }, { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111268", "name": "Myopathy, myosin storage, autosomal recessive", "description": "" }, { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111268", "name": "congenital myopathy 7B", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "myopathy, myosin storage, autosomal recessive", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "autosomal recessive myosin storage myopathy", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "myopathy, myosin storage, autosomal recessive", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "MSMB", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "myopathy, hyaline body, autosomal recessive", "description": "" }, { "id": "MIM:255160", "resource": "MIM", "url": "https://www.omim.org/entry/255160", "name": "Congenital myopathy 7B, myosin storage, autosomal recessive", "description": "Congenital myopathy 7B, myosin storage, autosomal recessive" } ], "evidence": [ { "id": "255160", "database": "MIM", "url": "https://www.omim.org/entry/255160" } ] }, { "disease_id": "DOID:0111269", "recommended_name": { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "autosomal dominant hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2." }, "synonyms": [ { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "MSMA", "description": "" }, { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "Myopathy, myosin storage, autosomal dominant", "description": "" }, { "id": "DOID:0111269", "resource": "Disease Ontology", "url": 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{ "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset scapuloperoneal syndrome", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related scapuloperoneal myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMD", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMM", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "autosomal dominant myosin storage myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy with lysis of type 1 myofibrils", 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in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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"chr_pos": "23417161", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1504", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12883", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12883" }, { "id": "rs1219074705", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1219074705" }, { "id": "rs1219074705", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1219074705" }, { "id": "rs1219074705", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1219074705#frequency_tab" }, { "id": "rs1219074705", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1219074705" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1511, "end_pos": 1511, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "14", "chr_pos": "23416981", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1511", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs730880913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs730880913" }, { "id": "rs730880913", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs730880913" }, { "id": "rs730880913", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs730880913#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1611, "end_pos": 1611, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEA->NES).", "chr_id": "14", "chr_pos": "23416126", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1611", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110454", "recommended_name": { "id": "DOID:0110454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110454", "name": "dilated cardiomyopathy 1S", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110454", "name": "CMD1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy 1S", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "CMD1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "MYH7 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "cardiomyopathy, dilated, type 1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy type 1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "familial isolated dilated cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "cardiomyopathy, dilated, 1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy-1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "left ventricular noncompaction 5", "description": "" }, { "id": "MIM:613426", "resource": "MIM", "url": "https://www.omim.org/entry/613426", "name": "Cardiomyopathy, dilated, 1S", "description": "Cardiomyopathy, dilated, 1S" } ] }, { "disease_id": "DOID:0110307", "recommended_name": { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 1", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "CMH1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 19", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ] }, { "disease_id": "DOID:0080326", "recommended_name": { "id": "DOID:0080326", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080326", "name": "familial hypertrophic cardiomyopathy", "description": "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations." }, "synonyms": [ { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ] }, { "disease_id": "DOID:11720", "recommended_name": { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "distal myopathy", "description": "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands." }, "synonyms": [ { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "Miyoshi muscular dystrophy", "description": "" }, { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "distal muscular dystrophy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Gowers disease", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing early-onset distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MPD1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "distal myopathy type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, early-onset, autosomal dominant", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, late distal hereditary", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myosin storage myopathy", "description": "" }, { "id": "MIM:160500", "resource": "MIM", "url": "https://www.omim.org/entry/160500", "name": "Myopathy, distal, 1", "description": "Myopathy, distal, 1" } ] }, { "disease_id": "DOID:0070197", "recommended_name": { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "distal myopathy 1", "description": "A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2." }, "synonyms": [ { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "Distal myopathy type 1", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "Gowers disease", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "Laing distal myopathy", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "Laing early-onset distal myopathy", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "MPD1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Gowers disease", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing early-onset distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MPD1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "distal myopathy type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, early-onset, autosomal dominant", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, late distal hereditary", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myosin storage myopathy", "description": "" }, { "id": "MIM:160500", "resource": "MIM", "url": "https://www.omim.org/entry/160500", "name": "Myopathy, distal, 1", "description": "Myopathy, distal, 1" } ] }, { "disease_id": "DOID:0111268", "recommended_name": { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111268", "name": "autosomal recessive hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2." }, "synonyms": [ { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111268", "name": "MSMB", "description": "" }, { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111268", "name": "Myopathy, myosin storage, autosomal recessive", "description": "" }, { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111268", "name": "congenital myopathy 7B", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "myopathy, myosin storage, autosomal recessive", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "autosomal recessive myosin storage myopathy", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "myopathy, myosin storage, autosomal recessive", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "MSMB", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "myopathy, hyaline body, autosomal recessive", "description": "" }, { "id": "MIM:255160", "resource": "MIM", "url": "https://www.omim.org/entry/255160", "name": "Congenital myopathy 7B, myosin storage, autosomal recessive", "description": "Congenital myopathy 7B, myosin storage, autosomal recessive" } ] }, { "disease_id": "DOID:0111269", "recommended_name": { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "autosomal dominant hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2." }, "synonyms": [ { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "MSMA", "description": "" }, { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "Myopathy, myosin storage, autosomal dominant", "description": "" }, { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "myopathy with lysis of type I myofibrils", "description": "" }, { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "congenital myopathy 7A", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "congenital myopathy 7A, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MSMA", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset SPMD", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset scapuloperoneal muscular dystrophy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset scapuloperoneal syndrome", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related scapuloperoneal myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMD", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMM", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "autosomal dominant myosin storage myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy with lysis of type 1 myofibrils", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, hyaline body, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal muscular dystrophy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal myopathy, MYH7-related", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal syndrome, myopathic type", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "congenital myopathy 7A, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MSMA", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset SPMD", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset scapuloperoneal muscular dystrophy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset scapuloperoneal syndrome", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related scapuloperoneal myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMD", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMM", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "autosomal dominant myosin storage myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy with lysis of type 1 myofibrils", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, hyaline body, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal muscular dystrophy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal myopathy, MYH7-related", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal syndrome, myopathic type", "description": "" }, { "id": "MIM:608358", "resource": "MIM", "url": "https://www.omim.org/entry/608358", "name": "Congenital myopathy 7A, myosin storage, autosomal dominant", "description": "Congenital myopathy 7A, myosin storage, autosomal dominant" } ] } ] }, { "evidence": [ { "id": "rs145822086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145822086" }, { "id": "rs145822086", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145822086" }, { "id": "rs145822086", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145822086#frequency_tab" }, { "id": "rs145822086", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145822086" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1635, "end_pos": 1635, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRM->NRT).", "chr_id": "14", "chr_pos": "23416053", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1635", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110454", "recommended_name": { "id": "DOID:0110454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110454", "name": "dilated cardiomyopathy 1S", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110454", "name": "CMD1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy 1S", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "CMD1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "MYH7 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "cardiomyopathy, dilated, type 1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy type 1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "familial isolated dilated cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "cardiomyopathy, dilated, 1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy-1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "left ventricular noncompaction 5", "description": "" }, { "id": "MIM:613426", "resource": "MIM", "url": "https://www.omim.org/entry/613426", "name": "Cardiomyopathy, dilated, 1S", "description": "Cardiomyopathy, dilated, 1S" } ] }, { "disease_id": "DOID:0110307", "recommended_name": { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 1", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "CMH1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 19", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a 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"https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ] }, { "disease_id": "DOID:0080326", "recommended_name": { "id": "DOID:0080326", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080326", "name": "familial hypertrophic cardiomyopathy", "description": "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations." }, "synonyms": [ { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ] }, { "disease_id": "DOID:11720", "recommended_name": { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "distal myopathy", "description": "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands." }, "synonyms": [ { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "Miyoshi muscular dystrophy", "description": "" }, { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "distal muscular dystrophy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Gowers disease", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing early-onset distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MPD1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "distal myopathy type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, early-onset, autosomal dominant", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, late distal hereditary", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myosin storage myopathy", "description": "" }, { "id": "MIM:160500", "resource": "MIM", "url": "https://www.omim.org/entry/160500", "name": "Myopathy, distal, 1", "description": "Myopathy, distal, 1" } ] }, { "disease_id": "DOID:0070197", "recommended_name": { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "distal myopathy 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"" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Gowers disease", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing early-onset distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MPD1", 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autosomal dominant", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, late distal hereditary", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myosin storage myopathy", "description": "" }, { "id": "MIM:160500", "resource": "MIM", "url": "https://www.omim.org/entry/160500", "name": "Myopathy, distal, 1", "description": "Myopathy, distal, 1" } ] }, { "disease_id": "DOID:0111268", "recommended_name": { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111268", "name": "autosomal recessive hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2." }, "synonyms": [ { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111268", "name": "MSMB", "description": "" }, { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111268", "name": "Myopathy, myosin storage, autosomal recessive", "description": "" }, { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111268", "name": "congenital myopathy 7B", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "myopathy, myosin storage, autosomal recessive", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "autosomal recessive myosin storage myopathy", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "myopathy, myosin storage, autosomal recessive", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "MSMB", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "myopathy, hyaline body, autosomal recessive", "description": "" }, { "id": "MIM:255160", "resource": "MIM", "url": "https://www.omim.org/entry/255160", "name": "Congenital myopathy 7B, myosin storage, autosomal recessive", "description": "Congenital myopathy 7B, myosin storage, autosomal recessive" } ] }, { "disease_id": "DOID:0111269", "recommended_name": { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "autosomal dominant hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2." }, "synonyms": [ { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "MSMA", "description": "" }, { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "Myopathy, myosin storage, autosomal dominant", "description": "" }, { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "myopathy with lysis of type I myofibrils", "description": "" }, { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "congenital myopathy 7A", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "congenital myopathy 7A, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MSMA", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset SPMD", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset scapuloperoneal muscular dystrophy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset scapuloperoneal syndrome", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related scapuloperoneal myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMD", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMM", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "autosomal dominant myosin storage myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy with lysis of type 1 myofibrils", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, hyaline body, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal muscular dystrophy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal myopathy, MYH7-related", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal syndrome, myopathic type", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "congenital myopathy 7A, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MSMA", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset SPMD", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset scapuloperoneal muscular dystrophy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset scapuloperoneal syndrome", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related scapuloperoneal myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMD", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMM", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "autosomal dominant myosin storage myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy with lysis of type 1 myofibrils", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, hyaline body, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal muscular dystrophy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal myopathy, MYH7-related", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal syndrome, myopathic type", "description": "" }, { "id": "MIM:608358", "resource": "MIM", "url": "https://www.omim.org/entry/608358", "name": "Congenital myopathy 7A, myosin storage, autosomal dominant", "description": "Congenital myopathy 7A, myosin storage, autosomal dominant" } ] } ] }, { "evidence": [ { "id": "rs1892891910", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1892891910" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 307, "end_pos": 307, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNP->NNS).", "chr_id": "14", "chr_pos": "23430640", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P307", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs121913640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913640" }, { "id": "rs121913640", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121913640#frequency_tab" }, { "id": "rs121913640", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121913640" }, { "id": "9544842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9544842" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 349, "end_pos": 349, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSM->NST).", "chr_id": "14", "chr_pos": "23429867", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M349", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110454", "recommended_name": { "id": "DOID:0110454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110454", "name": "dilated cardiomyopathy 1S", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110454", "name": "CMD1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy 1S", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "CMD1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "MYH7 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "cardiomyopathy, dilated, type 1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy type 1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "familial isolated dilated cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "cardiomyopathy, dilated, 1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy-1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "left ventricular noncompaction 5", "description": "" }, { "id": "MIM:613426", "resource": "MIM", "url": "https://www.omim.org/entry/613426", "name": "Cardiomyopathy, dilated, 1S", "description": "Cardiomyopathy, dilated, 1S" } ] }, { "disease_id": "DOID:0110307", "recommended_name": { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 1", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "CMH1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 19", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ] }, { "disease_id": "DOID:0080326", "recommended_name": { "id": "DOID:0080326", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080326", "name": "familial hypertrophic cardiomyopathy", "description": "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations." }, "synonyms": [ { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ] }, { "disease_id": "DOID:11720", "recommended_name": { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "distal myopathy", "description": "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands." }, "synonyms": [ { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "Miyoshi muscular dystrophy", "description": "" }, { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "distal muscular dystrophy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Gowers disease", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing early-onset distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MPD1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "distal myopathy type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, early-onset, autosomal dominant", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, late distal hereditary", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myosin storage myopathy", "description": "" }, { "id": "MIM:160500", "resource": "MIM", "url": "https://www.omim.org/entry/160500", "name": "Myopathy, distal, 1", "description": "Myopathy, distal, 1" } ] }, { "disease_id": "DOID:0070197", "recommended_name": { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "distal myopathy 1", "description": "A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2." }, "synonyms": [ { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "Distal myopathy type 1", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "Gowers disease", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "Laing distal myopathy", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "Laing early-onset distal myopathy", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "MPD1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Gowers disease", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing early-onset distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MPD1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "distal myopathy type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, early-onset, autosomal dominant", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, late distal hereditary", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myosin storage myopathy", "description": "" }, { "id": "MIM:160500", "resource": "MIM", "url": "https://www.omim.org/entry/160500", "name": "Myopathy, distal, 1", "description": "Myopathy, distal, 1" } ] }, { "disease_id": "DOID:0111268", "recommended_name": { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111268", "name": "autosomal recessive hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2." }, "synonyms": [ 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"myopathy, myosin storage, autosomal recessive", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "MSMB", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "myopathy, hyaline body, autosomal recessive", "description": "" }, { "id": "MIM:255160", "resource": "MIM", "url": "https://www.omim.org/entry/255160", "name": "Congenital myopathy 7B, myosin storage, autosomal recessive", "description": "Congenital myopathy 7B, myosin storage, autosomal recessive" } ] }, { "disease_id": "DOID:0111269", "recommended_name": { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "autosomal dominant hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2." }, "synonyms": [ { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "MSMA", "description": "" }, { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "Myopathy, myosin storage, autosomal dominant", "description": "" }, { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "myopathy with lysis of type I myofibrils", "description": "" }, { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "congenital myopathy 7A", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "congenital myopathy 7A, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": 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"https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMM", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "autosomal dominant myosin storage myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy with lysis of type 1 myofibrils", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, hyaline body, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal muscular dystrophy", "description": "" }, { 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"database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs730880928" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 484, "end_pos": 484, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEK->NET).", "chr_id": "14", "chr_pos": "23428627", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K484", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs564101364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs564101364" }, { "id": "rs564101364", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs564101364" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 545, "end_pos": 545, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DMT->NMT).", "chr_id": "14", "chr_pos": "23427840", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D545", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775089432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775089432" }, { "id": "rs775089432", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775089432" }, { "id": "rs775089432", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775089432#frequency_tab" }, { "id": "rs775089432", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775089432" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 591, "end_pos": 591, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NII->NIT).", "chr_id": "14", "chr_pos": "23427701", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I591", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110454", "recommended_name": { "id": "DOID:0110454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110454", "name": "dilated cardiomyopathy 1S", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110454", "name": "CMD1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy 1S", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "CMD1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", 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"MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ] }, { "disease_id": "DOID:11720", "recommended_name": { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "distal myopathy", "description": "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands." }, "synonyms": [ { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "Miyoshi muscular dystrophy", "description": "" }, { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "distal muscular dystrophy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Gowers disease", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing early-onset distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MPD1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "distal myopathy type 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storage myopathy", "description": "" }, { "id": "MIM:160500", "resource": "MIM", "url": "https://www.omim.org/entry/160500", "name": "Myopathy, distal, 1", "description": "Myopathy, distal, 1" } ] }, { "disease_id": "DOID:0070197", "recommended_name": { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "distal myopathy 1", "description": "A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2." }, "synonyms": [ { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "Distal myopathy type 1", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "Gowers disease", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "Laing distal myopathy", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "Laing early-onset distal myopathy", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070197", "name": "MPD1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Gowers disease", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing early-onset distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MPD1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "distal myopathy type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, early-onset, autosomal dominant", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, late distal hereditary", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myosin storage myopathy", "description": "" }, { "id": "MIM:160500", "resource": "MIM", "url": "https://www.omim.org/entry/160500", "name": "Myopathy, distal, 1", "description": "Myopathy, distal, 1" } ] }, { "disease_id": "DOID:0111268", "recommended_name": { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111268", "name": "autosomal recessive hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2." }, "synonyms": [ { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111268", "name": "MSMB", "description": "" }, { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111268", "name": "Myopathy, myosin storage, autosomal recessive", "description": "" }, { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111268", "name": "congenital myopathy 7B", "description": "" }, { "id": "MONDO:0009708", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009708", "name": "myopathy, myosin storage, autosomal 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"DOID:0111269", "recommended_name": { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "autosomal dominant hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2." }, "synonyms": [ { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "MSMA", "description": "" }, { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "Myopathy, myosin storage, autosomal dominant", "description": "" }, { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "myopathy with lysis of type I myofibrils", "description": "" }, { "id": "DOID:0111269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111269", "name": "congenital myopathy 7A", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "congenital myopathy 7A, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MSMA", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset SPMD", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset scapuloperoneal muscular dystrophy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset scapuloperoneal syndrome", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related scapuloperoneal myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMD", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMM", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "autosomal dominant myosin storage myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy with lysis of type 1 myofibrils", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, hyaline body, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal muscular dystrophy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal myopathy, MYH7-related", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal syndrome, myopathic type", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "congenital myopathy 7A, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MSMA", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset SPMD", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset scapuloperoneal muscular dystrophy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related late-onset scapuloperoneal syndrome", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "MYH7-related scapuloperoneal myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMD", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "SPMM", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "autosomal dominant myosin storage myopathy", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy with lysis of type 1 myofibrils", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, hyaline body, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "myopathy, myosin storage, autosomal dominant", "description": "" }, { "id": "MONDO:0008409", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008409", "name": "scapuloperoneal muscular dystrophy", "description": "" }, { 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"Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "14", "chr_pos": "23427640", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K611", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110307", "recommended_name": { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 1", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "CMH1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "DOID:0110307", "resource": 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"https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { 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"https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", 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"" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P12883", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12883" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12883" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P12883", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12883" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P12883", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12883" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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}, { "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": 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"https://www.rcsb.org/structure/8EFI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8ENC", "url": "https://www.rcsb.org/structure/8ENC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00063", "url": "http://pfam.xfam.org/family/PF00063", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01576", "url": "http://pfam.xfam.org/family/PF01576", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02736", "url": "http://pfam.xfam.org/family/PF02736", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P12883", "url": "https://pharos.nih.gov/targets/P12883", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P12883", "url": "http://purl.obolibrary.org/obo/PR_P12883", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_000248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000248", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12883-1", "url": "https://www.uniprot.org/uniprot/P12883-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": 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"length": 1935, "header": "sp|P12883-1|MYH7_HUMAN Isoform 1 of Myosin-7 OS=Homo sapiens OX=9606 GN=MYH7 PE=1 SV=5 CANONICAL=P12883-1" }, "isoforms": [ { "isoform_ac": "P12883-1", "url": "", "sequence": { "sequence": "MGDSEMAVFGAAAPYLRKSEKERLEAQTRPFDLKKDVFVPDDKQEFVKAKIVSREGGKVTAETEYGKTVTVKEDQVMQQNPPKFDKIEDMAMLTFLHEPAVLYNLKDRYGSWMIYTYSGLFCVTVNPYKWLPVYTPEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGESGAGKTVNTKRVIQYFAVIAAIGDRSKKDQSPGKGTLEDQIIQANPALEAFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERDYHIFYQILSNKKPELLDMLLITNNPYDYAFISQGETTVASIDDAEELMATDNAFDVLGFTSEEKNSMYKLTGAIMHFGNMKFKLKQREEQAEPDGTEEADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQNVQQVIYATGALAKAVYERMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMFPKATDMTFKAKLFDNHLGKSANFQKPRNIKGKPEAHFSLIHYAGIVDYNIIGWLQKNKDPLNETVVGLYQKSSLKLLSTLFANYAGADAPIEKGKGKAKKGSSFQTVSALHRENLNKLMTNLRSTHPHFVRCIIPNETKSPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDFRQRYRILNPAAIPEGQFIDSRKGAEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRDERLSRIITRIQAQSRGVLARMEYKKLLERRDSLLVIQWNIRAFMGVKNWPWMKLYFKIKPLLKSAEREKEMASMKEEFTRLKEALEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNLADAEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKRDIDDLELTLAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQAEEDKVNTLTKAKVKLEQQVDDLEGSLEQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKQQLDERLKKKDFELNALNARIEDEQALGSQLQKKLKELQARIEELEEELEAERTARAKVEKLRSDLSRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHADSVAELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKMCRTLEDQMNEHRSKAEETQRSVNDLTSQRAKLQTENGELSRQLDEKEALISQLTRGKLTYTQQLEDLKRQLEEEVKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQEAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAAAAALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISDLTEQLGSSGKTIHELEKVRKQLEAEKMELQSALEEAEASLEHEEGKILRAQLEFNQIKAEIERKLAEKDEEMEQAKRNHLRVVDSLQTSLDAETRSRNEALRVKKKMEGDLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRNNLLQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMDADLSQLQTEVEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEAEQIALKGGKKQLQKLEARVRELENELEAEQKRNAESVKGMRKSERRIKELTYQTEEDRKNLLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVNKLRAKSRDIGTKGLNEE", "length": 1935, "header": "sp|P12883-1|MYH7_HUMAN Isoform 1 of Myosin-7 OS=Homo sapiens OX=9606 GN=MYH7 PE=1 SV=5 CANONICAL=P12883-1" }, "locus": { "chromosome": "14", "start_pos": 23433732, "end_pos": 23412857, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000355349.4", "url": "https://www.ensembl.org/id/ENST00000355349.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000347507.3", "url": "https://www.ensembl.org/id/ENSP00000347507.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1282, "start_aa": "Thr", "end_pos": 1282, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1282", "evidence": [ { "id": "P12883", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12883" }, { "id": "23271734", "database": "PubMed", "url": 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"comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12883", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12883" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser866" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.", "journal": "Heart (British Cardiac Society)", "date": "1998", "authors": "Arbustini E, Fasani R, Morbini P, Diegoli M, Grasso M, Dal Bello B, Marangoni E, Banfi P, Banchieri N, Bellini O, Comi G, Narula J, Campana C, Gavazzi A, Danesino C, Vigano M", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "10065021", "url": "https://glygen.org/publication/PubMed/10065021" } ] }, { "title": "Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain.", "journal": "Journal of molecular and cellular cardiology", "date": "1999", "authors": "Bundgaard H, Havndrup O, Andersen PS, Larsen LA, Brandt NJ, Vuust J, Kjeldsen K, Christiansen M", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "10329202", "url": "https://glygen.org/publication/PubMed/10329202" } ] }, { "title": "The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.", "journal": "American journal of human genetics", "date": "1999", "authors": "Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA, Corfield VA", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "10521296", "url": "https://glygen.org/publication/PubMed/10521296" } ] }, { "title": "Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene.", "journal": "Clinical genetics", "date": "1999", "authors": "Andersen PS, Havndrup O, Bundgaard H, Larsen LA, Vuust J, Kjeldsen K, Christiansen M", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "10563488", "url": "https://glygen.org/publication/PubMed/10563488" } ] }, { "title": "A novel missense mutation (R712L) adjacent to the `active thiol` region of the cardiac beta-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family.", "journal": "Human mutation", "date": "2000", "authors": "Sakthivel S, Joseph PK, Tharakan JM, Vosberg HP, Rajamanickam C", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "10679957", "url": "https://glygen.org/publication/PubMed/10679957" } ] }, { "title": "Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy.", "journal": "Human mutation", "date": "2000", "authors": "Anan R, Shono H, Tei C", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "10862102", "url": "https://glygen.org/publication/PubMed/10862102" } ] }, { "title": "The human beta-myosin heavy chain gene: sequence diversity and functional characteristics of the protein.", "journal": "J. Cell. Biochem.", "date": "2000", "authors": "Wendel B, Reinhard R, Wachtendorf U, Zacharzowsky U B, Osterziel K J, Schulte H D, Haase H, Hoehe M R, Morano I", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "10996847", "url": "https://glygen.org/publication/PubMed/10996847" } ] }, { "title": "Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.", "journal": "The New England journal of medicine", "date": "2000", "authors": "Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "11106718", "url": "https://glygen.org/publication/PubMed/11106718" } ] }, { "title": "Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene.", "journal": "Journal of molecular and cellular cardiology", "date": "2000", "authors": "Enjuto M, Francino A, Navarro-Lopez F, Viles D, Pare JC, Ballesta AM", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "11113006", "url": "https://glygen.org/publication/PubMed/11113006" } ] }, { "title": "Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.", "journal": "Journal of molecular and cellular cardiology", "date": "2001", "authors": "Greber-Platzer S, Marx M, Fleischmann C, Suppan C, Dobner M, Wimmer M", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "11133230", "url": "https://glygen.org/publication/PubMed/11133230" } ] }, { "title": "A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy.", "journal": "Scandinavian cardiovascular journal : SCJ", "date": "2000", "authors": "Havndrup O, Bundgaard H, Andersen PS, Larsen LA, Vuust J, Kjeldsen K, Christiansen M", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "11214007", "url": "https://glygen.org/publication/PubMed/11214007" } ] }, { "title": "Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.", "journal": "Journal of medical genetics", "date": "2001", "authors": "Blair E, Price SJ, Baty CJ, Ostman-Smith I, Watkins H", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "11424919", "url": "https://glygen.org/publication/PubMed/11424919" } ] }, { "title": "The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.", "journal": "Cell", "date": "2001", "authors": "Davis JS, Hassanzadeh S, Winitsky S, Lin H, Satorius C, Vemuri R, Aletras AH, Wen H, Epstein ND", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "11733062", "url": "https://glygen.org/publication/PubMed/11733062" } ] }, { "title": "Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.", "journal": "Circulation research", "date": "2002", "authors": "Blair E, Redwood C, de Jesus Oliveira M, Moolman-Smook JC, Brink P, Corfield VA, Ostman-Smith I, Watkins H", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "11861413", "url": "https://glygen.org/publication/PubMed/11861413" } ] }, { "title": "Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy.", "journal": "Human mutation", "date": "2002", "authors": "Waldmuller S, Freund P, Mauch S, Toder R, Vosberg HP", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "11968089", "url": "https://glygen.org/publication/PubMed/11968089" } ] }, { "title": "Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.", "journal": "Circulation", "date": "2002", "authors": "Ho CY, Sweitzer NK, McDonough B, Maron BJ, Casey SA, Seidman JG, Seidman CE, Solomon SD", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "12081993", "url": "https://glygen.org/publication/PubMed/12081993" } ] }, { "title": "Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Daehmlow S, Erdmann J, Knueppel T, Gille C, Froemmel C, Hummel M, Hetzer R, Regitz-Zagrosek V", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "12379228", "url": "https://glygen.org/publication/PubMed/12379228" } ] }, { "title": "Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations.", "journal": "Cardiovascular research", "date": "2003", "authors": "Havndrup O, Bundgaard H, Andersen PS, Allan Larsen L, Vuust J, Kjeldsen K, Christiansen M", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "12566107", "url": "https://glygen.org/publication/PubMed/12566107" } ] }, { "title": "Three novel mutations in exon 21 encoding beta-cardiac myosin heavy chain.", "journal": "Journal of applied genetics", "date": "2003", "authors": "Moric E, Mazurek U, Polonska J, Domal-Kwiatkowska D, Smolik S, Kozakiewicz K, Tendera M, Wilczok T", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "12590187", "url": "https://glygen.org/publication/PubMed/12590187" } ] }, { "title": "Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.", "journal": "Circulation", "date": "2003", "authors": "Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "12707239", "url": "https://glygen.org/publication/PubMed/12707239" } ] }, { "title": "Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.", "journal": "Journal of molecular and cellular cardiology", "date": "2003", "authors": "Morner S, Richard P, Kazzam E, Hellman U, Hainque B, Schwartz K, Waldenstrom A", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "12818575", "url": "https://glygen.org/publication/PubMed/12818575" } ] }, { "title": "Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.", "journal": "Genetic testing", "date": "2003", "authors": "Mohiddin SA, Begley DA, McLam E, Cardoso JP, Winkler JB, Sellers JR, Fananapazir L", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "12820698", "url": "https://glygen.org/publication/PubMed/12820698" } ] }, { "title": "Hypertrophic cardiomyopathy: two homozygous cases with `typical` hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Nanni L, Pieroni M, Chimenti C, Simionati B, Zimbello R, Maseri A, Frustaci A, Lanfranchi G", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "12951062", "url": "https://glygen.org/publication/PubMed/12951062" } ] }, { "title": "Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.", "journal": "Clinical genetics", "date": "2003", "authors": "Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, Tanis N, Dyachenko S, Hummel M, Hetzer R, Regitz-Zagrosek V", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "12974739", "url": "https://glygen.org/publication/PubMed/12974739" } ] }, { "title": "Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.", "journal": "Heart (British Cardiac Society)", "date": "2003", "authors": "Woo A, Rakowski H, Liew JC, Zhao MS, Liew CC, Parker TG, Zeller M, Wigle ED, Sole MJ", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "12975413", "url": "https://glygen.org/publication/PubMed/12975413" } ] }, { "title": "Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy.", "journal": "Biochemical and biophysical research communications", "date": "1992", "authors": "Nishi H, Kimura A, Harada H, Toshima H, Sasazuki T", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "1417858", "url": "https://glygen.org/publication/PubMed/1417858" } ] }, { "title": "Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.", "journal": "Annals of neurology", "date": "2003", "authors": "Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG, Oldfors A", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "14520662", "url": "https://glygen.org/publication/PubMed/14520662" } ] }, { "title": "Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.", "journal": "Neurology", "date": "2004", "authors": "Bohlega S, Abu-Amero SN, Wakil SM, Carroll P, Al-Amr R, Lach B, Al-Sayed Y, Cupler EJ, Meyer BF", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "15136674", "url": "https://glygen.org/publication/PubMed/15136674" } ] }, { "title": "Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).", "journal": "American journal of human genetics", "date": "2004", "authors": "Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "15322983", "url": "https://glygen.org/publication/PubMed/15322983" } ] }, { "title": "Comprehensive analysis of the beta-myosin heavy chain gene in 389 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[ { "database": "O-GlcNAc Database", "id": "P12883", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12883" }, { "database": "O-GlcNAc Atlas", "id": "P12883", "url": "https://oglcnac.org/atlas/detail/P12883" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12883", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12883" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy.", "journal": "BMC cardiovascular disorders", "date": "2023-10-04", "authors": "Naderi Niloofar, Mohsen-Pour Neda, Nilipour Yalda, Pourirahim Maryam, Maleki Majid, Kalayinia Samira", "evidence": [ { "database": "RefSeq", "id": "NP_000248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000248" } ], "reference": [ { "type": "PubMed", "id": "37794383", "url": "https://glygen.org/publication/PubMed/37794383" } ] }, { "title": "[Clinical phenotype and genetic analysis of patients with left ventricular noncompaction caused by the biallelic mutation of MYBPC3 and MYH7].", "journal": "Zhonghua xin xue guan bing za zhi", "date": "2023-11-24", "authors": "Zhang Y H, Li X Y, Song B R, Wang Y L, Zhang J R, Ren Y L", "evidence": [ { "database": "RefSeq", "id": "NP_000248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000248" } ], "reference": [ { "type": "PubMed", "id": "37963751", "url": "https://glygen.org/publication/PubMed/37963751" } ] }, { "title": "Enhanced myofilament calcium sensitivity aggravates abnormal calcium handling and diastolic dysfunction in patient-specific induced pluripotent stem cell-derived cardiomyocytes with MYH7 mutation.", "journal": "Cell calcium", "date": "2024-01", "authors": "Guo Guangli, Wang Lu, Li Xiaowei, Fu Wanrong, Cao Jinhua, Zhang Jianchao, Liu Yangyang, Liu Mengduan, Wang Mengyu, Zhao Guojun, Zhao Xi, Zhou Yangfan, Niu Shaohui, Liu Gangqiong, Zhang Yanzhou, Dong Jianzeng, Tao Hailong, Zhao Xiaoyan", "evidence": [ { "database": "RefSeq", "id": "NP_000248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000248" } ], "reference": [ { "type": "PubMed", "id": "38101154", "url": "https://glygen.org/publication/PubMed/38101154" } ] }, { "title": "Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.", "journal": "Human mutation", "date": "1995", "authors": "Moolman JC, Brink PA, Corfield VA", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "7581410", "url": "https://glygen.org/publication/PubMed/7581410" } ] }, { "title": "Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Rayment I, Holden HM, Sellers JR, Fananapazir L, Epstein ND", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "7731997", "url": "https://glygen.org/publication/PubMed/7731997" } ] }, { "title": "A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.", "journal": "Human molecular genetics", "date": "1994", "authors": "Consevage MW, Salada GC, Baylen BG, Ladda RL, Rogan PK", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "7848441", "url": "https://glygen.org/publication/PubMed/7848441" } ] }, { "title": "Isolation of a de novo mutant myocardial beta MHC protein in a pedigree with hypertrophic cardiomyopathy.", "journal": "Human molecular genetics", "date": "1994", "authors": "Greve G, Bachinski L, Friedman DL, Czernuzewicz G, Anan R, Towbin J, Seidman CE, Roberts R", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "7874131", "url": "https://glygen.org/publication/PubMed/7874131" } ] }, { "title": "Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy.", "journal": "Biochemical and biophysical research communications", "date": "1994-04-15", "authors": "Nishi H, Kimura A, Harada H, Adachi K, Koga Y, Sasazuki T, Toshima H", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "7909436", "url": "https://glygen.org/publication/PubMed/7909436" } ] }, { "title": "Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.", "journal": "American journal of human genetics", "date": "1993", "authors": "Watkins H, Thierfelder L, Anan R, Jarcho J, Matsumori A, McKenna W, Seidman JG, Seidman CE", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "8250038", "url": "https://glygen.org/publication/PubMed/8250038" } ] }, { "title": "Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.", "journal": "The Journal of clinical investigation", "date": "1993", "authors": "Dausse E, Komajda M, Fetler L, Dubourg O, Dufour C, Carrier L, Wisnewsky C, Bercovici J, Hengstenberg C, al-Mahdawi S, et al.", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "8254035", "url": "https://glygen.org/publication/PubMed/8254035" } ] }, { "title": "Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.", "journal": "Human molecular genetics", "date": "1993", "authors": "Moolman JC, Brink PA, Corfield VA", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "8268932", "url": "https://glygen.org/publication/PubMed/8268932" } ] }, { "title": "Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.", "journal": "The Journal of clinical investigation", "date": "1994", "authors": "Anan R, Greve G, Thierfelder L, Watkins H, McKenna WJ, Solomon S, Vecchio C, Shono H, Nakao S, Tanaka H, et al.", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "8282798", "url": "https://glygen.org/publication/PubMed/8282798" } ] }, { "title": "A missense mutation of cardiac beta-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families.", "journal": "Biochemical and biophysical research communications", "date": "1993", "authors": "Harada H, Kimura A, Nishi H, Sasazuki T, Toshima H", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "8343162", "url": "https://glygen.org/publication/PubMed/8343162" } ] }, { "title": "Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy.", "journal": "British heart journal", "date": "1993", "authors": "al-Mahdawi S, Chamberlain S, Cleland J, Nihoyannopoulos P, Gilligan D, French J, Choudhury L, Williamson R, Oakley C", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "8435239", "url": "https://glygen.org/publication/PubMed/8435239" } ] }, { "title": "Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Fananapazir L, Dalakas MC, Cyran F, Cohn G, Epstein ND", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "8483915", "url": "https://glygen.org/publication/PubMed/8483915" } ] }, { "title": "Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy.", "journal": "The Journal of clinical investigation", "date": "1993", "authors": "Cuda G, Fananapazir L, Zhu WS, Sellers JR, Epstein ND", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "8514894", "url": "https://glygen.org/publication/PubMed/8514894" } ] }, { "title": "Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy.", "journal": "American journal of medical genetics", "date": "1995-09-11", "authors": "Arai S, Matsuoka R, Hirayama K, Sakurai H, Tamura M, Ozawa T, Kimura M, Imamura S, Furutani Y, Joh-o K", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "8533830", "url": "https://glygen.org/publication/PubMed/8533830" } ] }, { "title": "Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure.", "journal": "Human genetics", "date": "1996", "authors": "Ko YL, Chen JJ, Tang TK, Cheng JJ, Lin SY, Liou YC, Kuan P, Wu CW, Lien WP, Liew CC", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "8655135", "url": "https://glygen.org/publication/PubMed/8655135" } ] }, { "title": "Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy.", "journal": "Journal of molecular and cellular cardiology", "date": "1996", "authors": "Kuang SQ, Yu JD, Lu L, He LM, Gong LS, Chen SJ, Chen Z", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "8899546", "url": "https://glygen.org/publication/PubMed/8899546" } ] }, { "title": "A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.", "journal": "Human genetics", "date": "1998", "authors": "Jeschke B, Uhl K, Weist B, Schroder D, Meitinger T, Dohlemann C, Vosberg HP", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" }, { "database": "dbSNP", "id": "rs121913640", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913640" } ], "reference": [ { "type": "PubMed", "id": "9544842", "url": "https://glygen.org/publication/PubMed/9544842" } ] }, { "title": "The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population.", "journal": "Journal of the American College of Cardiology", "date": "1998", "authors": "Jaaskelainen P, Soranta M, Miettinen R, Saarinen L, Pihlajamaki J, Silvennoinen K, Tikanoja T, Laakso M, Kuusisto J", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "9822100", "url": "https://glygen.org/publication/PubMed/9822100" } ] }, { "title": "Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.", "journal": "Human mutation", "date": "1998", "authors": "Tesson F, Richard P, Charron P, Mathieu B, Cruaud C, Carrier L, Dubourg O, Lautie N, Desnos M, Millaire A, Isnard R, Hagege AA, Bouhour JB, Bennaceur M, Hainque B, Guicheney P, Schwartz K, Komajda M", "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprot/P12883" } ], "reference": [ { "type": "PubMed", "id": "9829907", "url": "https://glygen.org/publication/PubMed/9829907" } ] } ], "pathway": [ { "id": "hsa:4625", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4625", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P02564-1", "protein_name": "Myosin-7", "gene_name": "Myh7", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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