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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": 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}, { "id": "rs764388462", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764388462#frequency_tab" }, { "id": "rs764388462", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764388462" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 14198, "end_pos": 14198, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRI->NRT).", "chr_id": "2", "chr_pos": "178617835", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I14198", "disease": [ { "disease_id": "DOID:0110283", "recommended_name": { "id": "DOID:0110283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110283", "name": "autosomal recessive limb-girdle muscular dystrophy type 2J", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN)." }, "synonyms": [ { "id": "DOID:0110283", 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"description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs727503622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs727503622" }, { "id": "rs727503622", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs727503622" }, { "id": "rs727503622", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs727503622#frequency_tab" }, { "id": "rs727503622", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs727503622" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 14352, "end_pos": 14352, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TAT->NAT).", "chr_id": "2", "chr_pos": "178616911", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T14352", "disease": [ { "disease_id": "DOID:0110283", "recommended_name": { "id": "DOID:0110283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110283", "name": "autosomal recessive limb-girdle muscular dystrophy type 2J", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN)." }, "synonyms": [ { "id": "DOID:0110283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110283", "name": "LGMD2J", "description": "" }, { "id": "DOID:0110283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110283", "name": "muscular dystrophy, limb-girdle, type 2J", "description": "" }, { "id": "MONDO:0012127", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012127", "name": "autosomal recessive limb-girdle muscular dystrophy type 2J", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset." }, { "id": "MONDO:0012127", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012127", "name": "LGMD2J", "description": "" }, { "id": "MONDO:0012127", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012127", "name": "TTN autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012127", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012127", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN", "description": "" }, { "id": "MONDO:0012127", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012127", "name": "muscular dystrophy, limb-girdle, autosomal recessive 10", "description": "" }, { "id": "MONDO:0012127", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012127", "name": "muscular dystrophy, limb-girdle, type 2J", "description": "" }, { "id": "MONDO:0012127", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012127", "name": "limb-girdle muscular dystrophy type 2J", "description": "" }, { "id": "MIM:608807", "resource": "MIM", "url": "https://www.omim.org/entry/608807", "name": "Muscular dystrophy, limb-girdle, autosomal recessive 10", "description": "Muscular dystrophy, limb-girdle, autosomal recessive 10" } ], "unlinked_id_list": [], "evidence": [ { "id": "608807", "database": "MIM", "url": "https://www.omim.org/entry/608807" }, { "id": "0110283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110283" } ] }, { "disease_id": "DOID:0110430", "recommended_name": { "id": "DOID:0110430", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110430", "name": "dilated cardiomyopathy 1G", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31." }, "synonyms": [ { "id": "DOID:0110430", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110430", "name": "CMD1G", "description": "" }, { "id": "MONDO:0011400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011400", "name": "dilated cardiomyopathy 1G", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene." }, { "id": "MONDO:0011400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011400", "name": "CMD1G", "description": "" }, { "id": "MONDO:0011400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011400", "name": "TTN familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0011400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011400", "name": "cardiomyopathy, dilated, type 1G", "description": "" }, { "id": "MONDO:0011400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011400", "name": "dilated cardiomyopathy type 1G", "description": "" }, { "id": "MONDO:0011400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011400", "name": "familial isolated dilated cardiomyopathy caused by mutation in TTN", "description": "" }, { "id": "MONDO:0011400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011400", "name": "cardiomyopathy, dilated, 1G", "description": "" }, { "id": "MIM:604145", "resource": "MIM", "url": "https://www.omim.org/entry/604145", "name": "Cardiomyopathy, dilated, 1G", "description": "Cardiomyopathy, dilated, 1G" } ], "unlinked_id_list": [], "evidence": [ { "id": "604145", "database": "MIM", "url": "https://www.omim.org/entry/604145" }, { "id": "0110430", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110430" } ] }, { "disease_id": "DOID:0081341", "recommended_name": { "id": "DOID:0081341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081341", "name": "congenital myopathy 5", "description": "A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31." }, "synonyms": [ { "id": "DOID:0081341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081341", "name": "Salih myopathy", "description": "" }, { "id": "DOID:0081341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081341", "name": "congenital myopathy-5 with cardiomyopathy", "description": "" }, { "id": "MONDO:0012714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012714", "name": "early-onset myopathy with fatal cardiomyopathy", "description": "" }, { "id": "MONDO:0012714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012714", "name": "Salih myopathy", "description": "" }, { "id": "MONDO:0012714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012714", "name": "EOMFC", "description": "" }, { "id": "MONDO:0012714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012714", "name": "SALMY", "description": "" }, { "id": "MIM:611705", "resource": "MIM", "url": "https://www.omim.org/entry/611705", "name": "Congenital myopathy 5 with cardiomyopathy", "description": "Congenital myopathy 5 with cardiomyopathy" } ], "unlinked_id_list": [], "evidence": [ { "id": "611705", "database": "MIM", "url": "https://www.omim.org/entry/611705" }, { "id": "0081341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081341" } ] }, { "disease_id": "DOID:0111188", "recommended_name": { "id": "DOID:0111188", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111188", "name": "myofibrillar myopathy 9", "description": "A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31." }, "synonyms": [ { "id": "DOID:0111188", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111188", "name": "Edstrom myopathy", "description": "" }, { "id": "DOID:0111188", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111188", "name": "HIBM-ERF", "description": "" }, { "id": "DOID:0111188", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111188", "name": "HMERF", "description": "" }, { "id": "DOID:0111188", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111188", "name": "MFM-titinopathy", "description": "" }, { "id": "DOID:0111188", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111188", "name": "MFM9", "description": "" }, { "id": "DOID:0111188", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111188", "name": "MPRM", "description": "" }, { "id": "DOID:0111188", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111188", "name": "Myofibrillar myopathy-titinopathy", "description": "" }, { "id": "DOID:0111188", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111188", "name": "Hereditary inclusion body myopathy with early respiratory failure", "description": "" }, { "id": "DOID:0111188", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111188", "name": "hereditary myopathy with early respiratory failure", "description": "" }, { "id": "DOID:0111188", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111188", "name": "proximal myopathy with early respiratory muscle involvement", "description": "" }, { "id": "DOID:0111188", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111188", "name": "autosomal dominant distal myopathy with early respiratory failure", "description": "" }, { "id": "DOID:0111188", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111188", "name": "myofibrillar myopathy 9 with early respiratory failure", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "myopathy, myofibrillar, 9, with early respiratory failure", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "ADMERF", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "Edstrom myopathy", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "Edstrm myopathy", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "HIBM-ERF", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "HMERF", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "HMERF-ERF", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "distal myopathy with early respiratory muscle involvement", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "hereditary inclusion body myopathy with early respiratory failure", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "hereditary proximal myopathy with early respiratory failure", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "myofibrillar myopathy with early respiratory failure", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "myopathy, distal, with early respiratory failure, autosomal dominant", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "myopathy, proximal, with early respiratory muscle involvement", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "myopathy, myofibrillar, 9, with early respiratory failure", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "ADMERF", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "Edstrom myopathy", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "Edstrm myopathy", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "HIBM-ERF", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "HMERF", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "HMERF-ERF", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "distal myopathy with early respiratory muscle involvement", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "hereditary inclusion body myopathy with early respiratory failure", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "hereditary proximal myopathy with early respiratory failure", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "myofibrillar myopathy with early respiratory failure", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "myopathy, distal, with early respiratory failure, autosomal dominant", "description": "" }, { "id": "MONDO:0011362", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011362", "name": "myopathy, proximal, with early respiratory muscle involvement", "description": "" }, { "id": "MIM:603689", "resource": "MIM", "url": "https://www.omim.org/entry/603689", "name": "Myopathy, myofibrillar, 9, with early respiratory failure", "description": "Myopathy, myofibrillar, 9, with early respiratory failure" } ], "unlinked_id_list": [], "evidence": [ { "id": "603689", "database": "MIM", "url": "https://www.omim.org/entry/603689" }, { "id": "0111188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111188" } ] }, { "disease_id": "DOID:0111078", "recommended_name": { "id": "DOID:0111078", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111078", "name": "tibial muscular dystrophy", "description": "A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31." }, "synonyms": [ { "id": "DOID:0111078", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111078", "name": "Finnish tibial muscular dystrophy", "description": "" }, { "id": "DOID:0111078", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111078", "name": "TMD", "description": "" }, { "id": "DOID:0111078", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111078", "name": "Tardive tibial muscular dystrophy", "description": "" }, { "id": "DOID:0111078", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111078", "name": "Udd myopathy", "description": "" }, { "id": "DOID:0111078", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111078", "name": "Udd type distal myopathy", "description": "" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0010870", "name": "distal myopathy, Udd type", "description": "" }, { "id": "MONDO:0010870", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010870", "name": "distal titinopathy", "description": "" }, { "id": "MONDO:0010870", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010870", "name": "tardive tibial muscular dystrophy", "description": "" }, { "id": "MIM:600334", "resource": "MIM", "url": "https://www.omim.org/entry/600334", "name": "Tardive tibial muscular dystrophy", "description": "Tardive tibial muscular dystrophy" } ], "unlinked_id_list": [], "evidence": [ { "id": "600334", "database": "MIM", "url": "https://www.omim.org/entry/600334" }, { "id": "0111078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111078" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "Q8WZ42", "database": "BioMuta", "url": 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"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:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": 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"https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": 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"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: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: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: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: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: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:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "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:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer 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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q8WZ42", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8WZ42" } ], "glycoeffect": [], "start_pos": 14490, "end_pos": 14490, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "2", "chr_pos": "178615709", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A14490", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ] } }