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"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": "rs867267949", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867267949" } ], "glycoeffect": [], "start_pos": 890, "end_pos": 890, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50189537", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G890", "disease": [ { "disease_id": "DOID:0110340", "recommended_name": { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "OI4", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": 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Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type 4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "common variable OI with normal sclerae", "description": "" }, { "id": "MIM:166220", "resource": "MIM", "url": "https://www.omim.org/entry/166220", "name": "Osteogenesis imperfecta 4", "description": "Osteogenesis imperfecta 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "166220", "database": "MIM", "url": "https://www.omim.org/entry/166220" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P02452", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P02452" } ], "glycoeffect": [], "start_pos": 890, "end_pos": 890, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "17", "chr_pos": "50189538", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G890", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs867267949", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867267949" }, { "id": "rs867267949", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867267949" } ], "glycoeffect": [], "start_pos": 890, "end_pos": 890, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50189537", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G890", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P02452", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P02452" } ], "glycoeffect": [], "start_pos": 891, "end_pos": 891, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "17", "chr_pos": "50189533", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "N891", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1906877569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1906877569" }, { "id": "rs1906877569", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1906877569" } ], "glycoeffect": [], "start_pos": 892, "end_pos": 892, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50189531", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A892", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs538224838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538224838" }, { "id": "rs538224838", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs538224838" } ], "glycoeffect": [], "start_pos": 892, "end_pos": 892, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50189532", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A892", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P02452", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P02452" } ], "glycoeffect": [], "start_pos": 892, "end_pos": 892, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "17", "chr_pos": "50189532", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A892", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic 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mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50189533", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A892", "disease": [ { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "OI1", "description": "" }, { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with 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"resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Osteopsathyrosis", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Vrolik's disease", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": 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"id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs756337302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756337302" }, { "id": "rs756337302", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756337302" }, { "id": "rs756337302", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756337302#frequency_tab" }, { "id": "rs756337302", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756337302" } ], "glycoeffect": [], "start_pos": 915, "end_pos": 915, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50189463", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P915", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080727", "recommended_name": { "id": "DOID:0080727", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080727", "name": "Ehlers-Danlos syndrome arthrochalasia type 1", "description": "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21." }, "synonyms": [ { "id": "MONDO:0020521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020521", "name": "Ehlers-Danlos syndrome type 7A", "description": "" }, { "id": "MONDO:0020521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020521", "name": "EDS VIIA", "description": "" }, { "id": "MIM:130060", "resource": "MIM", "url": "https://www.omim.org/entry/130060", "name": "Ehlers-Danlos syndrome, arthrochalasia type, 1", "description": "Ehlers-Danlos syndrome, arthrochalasia type, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "130060", "database": "MIM", "url": "https://www.omim.org/entry/130060" }, { "id": "0080727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080727" } ] }, { "disease_id": "DOID:4257", "recommended_name": { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "Caffey disease", "description": "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability." }, "synonyms": [ { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "cortical congenital hyperostosis", "description": "" }, { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described." }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MIM:114000", "resource": "MIM", "url": "https://www.omim.org/entry/114000", "name": "Caffey disease", "description": "Caffey disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "114000", "database": "MIM", "url": "https://www.omim.org/entry/114000" }, { "id": "4257", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4257" } ] }, { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "OI1", "description": "" }, { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." }, "synonyms": [ { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Lobstein's syndrome", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Osteopsathyrosis", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Vrolik's disease", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ] } ] }, { "evidence": [ { "id": "rs2509184068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2509184068" } ], "glycoeffect": [], "start_pos": 916, "end_pos": 916, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50189460", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A916", "disease": [ { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "OI1", "description": "" }, { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." }, "synonyms": [ { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Lobstein's syndrome", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Osteopsathyrosis", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Vrolik's disease", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs72653153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72653153" }, { "id": "rs72653153", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs72653153" } ], "glycoeffect": [], "start_pos": 917, "end_pos": 917, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50189456", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G917", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P02452", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P02452" }, { "id": "rs752929501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752929501" }, { "id": "rs752929501", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752929501" }, { "id": "rs752929501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752929501" } ], "glycoeffect": [], "start_pos": 918, "end_pos": 918, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "17", "chr_pos": "50189454", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R918", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "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": "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": "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: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", "ebi", "germline" ] }, { "evidence": [ { "id": "P02452", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P02452" }, { "id": "rs181824088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs181824088" }, { "id": "rs181824088", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs181824088" }, { "id": "rs181824088", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs181824088" }, { "id": "rs181824088", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs181824088#frequency_tab" }, { "id": "rs181824088", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs181824088" } ], "glycoeffect": [], "start_pos": 918, "end_pos": 918, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "17", "chr_pos": "50189453", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R918", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "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", 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EDS has five cardinal signs, which may be present to some degree in all of the subtypes. 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"https://monarchinitiative.org/disease/MONDO:0019567", "name": "EDSCL1", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "Ehlers-Danlos syndrome, classic type, 1", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "Ehlers-Danlos syndrome, type I", "description": "" }, { "id": "MIM:130000", "resource": "MIM", "url": "https://www.omim.org/entry/130000", "name": "Ehlers-Danlos syndrome, classic type, 1", "description": "Ehlers-Danlos syndrome, classic type, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "13359", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13359" } ] }, { "disease_id": "DOID:14720", "recommended_name": { "id": "DOID:14720", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14720", "name": "Ehlers-Danlos syndrome classic type 1", "description": "An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34." }, "synonyms": [ { "id": "DOID:14720", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14720", "name": "Ehlers-Danlos syndrome, type 1", "description": "" }, { "id": "DOID:14720", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14720", "name": "type I Ehlers-Danlos syndrome", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "Ehlers-Danlos syndrome, classic type, 1", "description": "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene." }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "EDS I", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "EDSCL1", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "Ehlers-Danlos syndrome, classic type, 1", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "Ehlers-Danlos syndrome, type I", "description": "" }, { "id": "MIM:130000", "resource": "MIM", "url": "https://www.omim.org/entry/130000", "name": "Ehlers-Danlos syndrome, classic type, 1", "description": "Ehlers-Danlos syndrome, classic type, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "14720", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14720" }, { "id": "14720", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14720" } ] }, { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "OI1", "description": "" }, { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." }, "synonyms": [ { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Lobstein's syndrome", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Osteopsathyrosis", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Vrolik's disease", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs769601541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769601541" }, { "id": "rs769601541", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769601541" }, { "id": "rs769601541", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769601541#frequency_tab" }, { "id": "rs769601541", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769601541" } ], "glycoeffect": [], "start_pos": 925, "end_pos": 925, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50189432", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P925", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P02452", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P02452" }, { "id": "rs772929903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772929903" }, { "id": "rs772929903", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772929903" }, { "id": "rs772929903", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772929903#frequency_tab" }, { "id": "rs772929903", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772929903" } ], "glycoeffect": [], "start_pos": 925, "end_pos": 925, "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "17", "chr_pos": "50189433", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P925", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "OI1", "description": "" }, { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis 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"description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An 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and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "OI1", "description": "" }, { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton 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"description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." }, "synonyms": [ { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Lobstein's syndrome", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Osteopsathyrosis", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Vrolik's disease", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs72653154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72653154" }, { "id": "rs72653154", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs72653154" }, { "id": "3198624", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3198624" }, { "id": "3667599", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3667599" } ], "glycoeffect": [], "start_pos": 926, "end_pos": 926, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50189430", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G926", "disease": [ { "disease_id": "DOID:0110341", "recommended_name": { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type 2", "description": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "OI2", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "perinatal lethal osteogenesis imperfecta congenita", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "lethal osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Perinatally lethal OI", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta congenita perinatal lethal form", "description": "" }, { "id": "MIM:166210", "resource": "MIM", "url": "https://www.omim.org/entry/166210", "name": "Osteogenesis imperfecta 2", "description": "Osteogenesis imperfecta 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110341" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P02452", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P02452" } ], "glycoeffect": [], "start_pos": 926, "end_pos": 926, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "17", "chr_pos": "50189429", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G926", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P02452", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P02452" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "start_pos": 926, "end_pos": 926, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "17", "chr_pos": "50189430", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G926", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs878853274", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs878853274" } ], "glycoeffect": [], "start_pos": 926, "end_pos": 926, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50189431", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G926", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "OI1", "description": "" }, { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." }, "synonyms": [ { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Lobstein's syndrome", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Osteopsathyrosis", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Vrolik's disease", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ] }, { "disease_id": "DOID:0110340", "recommended_name": { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "OI4", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type 4", "description": "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type 4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "common variable OI with normal sclerae", "description": "" }, { "id": "MIM:166220", "resource": "MIM", "url": 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"description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs756537503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756537503" }, { "id": "rs756537503", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756537503" }, { "id": "rs756537503", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756537503#frequency_tab" }, { "id": "rs756537503", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756537503" } ], "glycoeffect": [], "start_pos": 927, "end_pos": 927, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50189427", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P927", "disease": [ { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "OI1", "description": "" }, { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": 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The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "progressive deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009804", 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"https://www.ncbi.nlm.nih.gov/snp/rs1906849491#frequency_tab" } ], "glycoeffect": [], "start_pos": 955, "end_pos": 955, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50189241", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A955", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2144549155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144549155" }, { "id": "rs2144549155", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144549155" } ], "glycoeffect": [], "start_pos": 956, "end_pos": 956, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50189238", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G956", "disease": [ { "disease_id": "DOID:0110340", "recommended_name": { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "OI4", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "MONDO:0008148", 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Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type 4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "common variable OI with normal sclerae", "description": "" }, { "id": "MIM:166220", "resource": "MIM", "url": 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"https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": 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978, "end_pos": 978, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "17", "chr_pos": "50189173", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P978", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:0080727", "recommended_name": { "id": "DOID:0080727", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080727", "name": "Ehlers-Danlos syndrome arthrochalasia type 1", "description": "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21." }, "synonyms": [ { "id": "MONDO:0020521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020521", "name": "Ehlers-Danlos syndrome type 7A", "description": "" }, { "id": "MONDO:0020521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020521", "name": "EDS VIIA", "description": "" }, { "id": "MIM:130060", "resource": "MIM", "url": "https://www.omim.org/entry/130060", "name": "Ehlers-Danlos syndrome, arthrochalasia type, 1", "description": "Ehlers-Danlos syndrome, arthrochalasia type, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "130060", "database": "MIM", "url": "https://www.omim.org/entry/130060" }, { "id": "0080727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080727" } ] }, { "disease_id": "DOID:4257", "recommended_name": { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "Caffey disease", "description": "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability." }, "synonyms": [ { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "cortical congenital hyperostosis", "description": "" }, { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. 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"https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." }, "synonyms": [ { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Lobstein's syndrome", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Osteopsathyrosis", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Vrolik's disease", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": 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"https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ] }, { "disease_id": "DOID:0080727", "recommended_name": { "id": "DOID:0080727", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080727", "name": "Ehlers-Danlos syndrome arthrochalasia type 1", "description": "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21." }, "synonyms": [ { "id": "MONDO:0020521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020521", "name": "Ehlers-Danlos syndrome type 7A", "description": "" }, { "id": "MONDO:0020521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020521", "name": "EDS VIIA", "description": "" }, { "id": "MIM:130060", "resource": "MIM", "url": "https://www.omim.org/entry/130060", "name": "Ehlers-Danlos syndrome, arthrochalasia type, 1", "description": "Ehlers-Danlos syndrome, arthrochalasia type, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "130060", "database": "MIM", "url": "https://www.omim.org/entry/130060" }, { "id": "0080727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080727" } ] }, { "disease_id": "DOID:4257", "recommended_name": { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "Caffey disease", "description": "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability." }, "synonyms": [ { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "cortical congenital hyperostosis", "description": "" }, { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described." }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MIM:114000", "resource": "MIM", "url": "https://www.omim.org/entry/114000", "name": "Caffey disease", "description": "Caffey disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "114000", "database": "MIM", "url": "https://www.omim.org/entry/114000" }, { "id": "4257", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4257" } ] }, { "disease_id": "DOID:0110339", "recommended_name": { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "osteogenesis imperfecta type 3", "description": "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "progressively deforming osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "OI3", "description": "" }, { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "progressive deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "severe osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta, progressively deforming with normal sclerae", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "progressively deforming OI", "description": "" }, { "id": "MIM:259420", "resource": "MIM", "url": "https://www.omim.org/entry/259420", "name": "Osteogenesis imperfecta 3", "description": "Osteogenesis imperfecta 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110339" } ] }, { "disease_id": "DOID:0110340", "recommended_name": { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "OI4", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type 4", "description": "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type 4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "common variable OI with normal sclerae", "description": "" }, { "id": "MIM:166220", "resource": "MIM", "url": "https://www.omim.org/entry/166220", "name": "Osteogenesis imperfecta 4", "description": "Osteogenesis imperfecta 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "166220", "database": "MIM", "url": "https://www.omim.org/entry/166220" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" } ] }, { "disease_id": "DOID:0110341", "recommended_name": { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type 2", "description": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "OI2", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "perinatal lethal osteogenesis imperfecta congenita", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "lethal osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Perinatally lethal OI", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta congenita perinatal lethal form", "description": "" }, { "id": "MIM:166210", "resource": "MIM", "url": "https://www.omim.org/entry/166210", "name": "Osteogenesis imperfecta 2", "description": "Osteogenesis imperfecta 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110341" } ] }, { "disease_id": "DOID:11476", "recommended_name": { "id": "DOID:11476", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength." }, "synonyms": [ { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis", "description": "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)." }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "bone mineral density variation QTL, osteoporosis", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, postmenopausal", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, postmenopausal, susceptibility", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, susceptibility to", "description": "" }, { "id": "MIM:166710", "resource": "MIM", "url": "https://www.omim.org/entry/166710", "name": "Osteoporosis", "description": "Osteoporosis" } ], "unlinked_id_list": [], "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs72653166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72653166" }, { "id": "rs72653166", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs72653166" }, { "id": "1511982", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1511982" }, { "id": "1864604", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1864604" } ], "glycoeffect": [], "start_pos": 980, "end_pos": 980, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50189009", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G980", "disease": [ { "disease_id": "DOID:0110341", "recommended_name": { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type 2", "description": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "OI2", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "perinatal lethal osteogenesis imperfecta congenita", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "lethal osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ] } ] }, { "evidence": [ { "id": "rs1598288634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1598288634" }, { "id": "rs1598288634", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1598288634" } ], "glycoeffect": [], "start_pos": 998, "end_pos": 998, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50188955", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G998", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P02452", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P02452" } ], "glycoeffect": [], "start_pos": 998, "end_pos": 998, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "17", "chr_pos": "50188955", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G998", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1598288648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1598288648" }, { "id": "rs886042603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886042603" } ], "glycoeffect": [], "start_pos": 998, "end_pos": 998, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50188962", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G998", "disease": [ { "disease_id": "DOID:0110340", "recommended_name": { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "OI4", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type 4", "description": "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type 4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "common variable OI with normal sclerae", "description": "" }, { "id": "MIM:166220", "resource": "MIM", "url": 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"keywords": [ "ebi", "germline" ] } ] } }