{ "uniprot_canonical_ac": "A0A0B4KFE4-1", "uniprot_ac": "A0A0B4KFE4", "uniprot_id": "A0A0B4KFE4_DROME", "mass": { "chemical_mass": 81815.0, "monoisotopic_mass": 81815.0 }, "refseq": { "ac": "NP_001014507", "name": "Acyl-CoA synthetase long-chain, isoform I", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014507" }, "gene_names": [ { "name": "Acsl", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "7447; ACS; acsl; ACSL1; ACSL3; ACSL3/4; anon-WO0172774.173; CG8732; dAcsl; dFAC; Dmel\\CG8732; FACS; FCS; l(2)05847; l(2)44DEa; l(2)7447; l(2)k05304; l(2)SH0465; l(2)SH2 0465", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260810", "id": "NP_001260810" }, { "name": "7447", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "ACSL1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "ACSL3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "Acsl", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260810", "id": "NP_001260810" }, { "name": "CG8732", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "Dmel\\CG8732", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "Dmel_CG8732", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "FACS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "FCS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "anon-WO0172774.173", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "dAcsl", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "dFAC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "l(2)05847", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "l(2)44DEa", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "l(2)7447", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "l(2)SH0465", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "l(2)SH2 0465", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "l(2)k05304", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" } ], "protein_names": [ { "name": "6.2.1.3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0B4KFE4" }, { "name": "Acyl-CoA synthetase long-chain, isoform D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014512", "id": "NP_001014512" }, { "name": "Acyl-CoA synthetase long-chain, isoform H", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014508", "id": "NP_001014508" }, { "name": "Acyl-CoA synthetase long-chain, isoform I", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014507", "id": "NP_001014507" }, { "name": "Acyl-CoA synthetase long-chain, isoform J", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260810", "id": "NP_001260810" }, { "name": "Acyl-CoA synthetase long-chain, isoform J", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0B4KFE4" }, { "name": "CG8732-PD; Acsl-PD; lethal (2) SH0465; fatty acyl coenzyme A (CoA) synthetase; Long-chain acyl-CoA synthetase; Acyl-CoAsynthetase long-chain; fatty acyl CoA synthetase; lethal (2) 44DEa; fatty acyl-CoA synthetase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014512", "id": "NP_001014512" }, { "name": "CG8732-PH; Acsl-PH; lethal (2) SH0465; fatty acyl coenzyme A (CoA) synthetase; Long-chain acyl-CoA synthetase; Acyl-CoAsynthetase long-chain; fatty acyl CoA synthetase; lethal (2) 44DEa; fatty acyl-CoA synthetase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014508", "id": "NP_001014508" }, { "name": "CG8732-PI; Acsl-PI; lethal (2) SH0465; fatty acyl coenzyme A (CoA) synthetase; Long-chain acyl-CoA synthetase; Acyl-CoAsynthetase long-chain; fatty acyl CoA synthetase; lethal (2) 44DEa; fatty acyl-CoA synthetase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014507", "id": "NP_001014507" }, { "name": "CG8732-PJ; Acsl-PJ; lethal (2) SH0465; fatty acyl coenzyme A (CoA) synthetase; Long-chain acyl-CoA synthetase; Acyl-CoAsynthetase long-chain; fatty acyl CoA synthetase; lethal (2) 44DEa; fatty acyl-CoA synthetase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260810", "id": "NP_001260810" } ], "function": [], "disease": [ { "disease_id": "DOID:0050776", "recommended_name": { "id": "DOID:0050776", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050776", "name": "non-syndromic X-linked intellectual disability", "description": "A non-syndromic intellectual disability characterized by a X-linked inheritance pattern." }, "synonyms": [ { "id": "DOID:0050776", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050776", "name": "non-specific X-linked mental retardation", "description": "" }, { "id": "MONDO:0010413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010413", "name": "intellectual disability, X-linked 95", "description": "" }, { "id": "MONDO:0010413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010413", "name": "MRX95", "description": "" }, { "id": "MONDO:0010413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010413", "name": "intellectual disability, X-linked 95", "description": "" }, { "id": "MONDO:0010413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010413", "name": "mental retardation, X-linked 95, X-linked dominant", "description": "" }, { "id": "MONDO:0010413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010413", "name": "mental retardation, X-linked 95", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "intellectual disability, X-linked 1", "description": "An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities." }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "MRX", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "MRX1", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "MRX78", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "intellectual developmental disorder, X-linked 1, X-linked dominant", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "intellectual disability, X-linked 1", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "mental retardation, X-linked 1", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "mental retardation, X-linked 18", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "mental retardation, X-linked 78", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "mental retardation, X-linked type 1", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "IQSEC2", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "IQSEC2-related epilepsy", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "IQSEC2-related intellectual disability", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "X-linked intellectual disability 1", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "X-linked intellectual disability 1/78", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "X-linked intellectual disability 78", "description": "" }, { "id": "MIM:309530", "resource": "MIM", "url": "https://www.omim.org/entry/309530", "name": "Intellectual developmental disorder, X-linked 1", "description": "Intellectual developmental disorder, X-linked 1" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "disease_id": "DOID:0112050", "recommended_name": { "id": "DOID:0112050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112050", "name": "non-syndromic X-linked intellectual disability 63", "description": "A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23." }, "synonyms": [ { "id": "DOID:0112050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112050", "name": "MRX63", "description": "" }, { "id": "DOID:0112050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112050", "name": "MRX68", "description": "" }, { "id": "DOID:0112050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112050", "name": "ACSL4-related intellectual disability", "description": "" }, { "id": "DOID:0112050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112050", "name": "X-linked mental retardation 63", "description": "" }, { "id": "DOID:0112050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112050", "name": "X-linked mental retardation 68", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "intellectual disability, X-linked 63", "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene." }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "ACSL4 non-syndromic X-linked intellectual disability", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "intellectual developmental disorder, X-linked 63, X-linked dominant", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "intellectual disability, X-linked 63", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "intellectual disability, X-linked type 63", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "mental retardation, X-linked type 63", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "non-syndromic X-linked intellectual disability caused by mutation in ACSL4", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "ACSL4-related intellectual disability", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "MRX63", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "intellectual disability, X-linked 68", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "mental retardation, X-linked 63", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "mental retardation, X-linked 68", "description": "" }, { "id": "MIM:300387", "resource": "MIM", "url": "https://www.omim.org/entry/300387", "name": "Intellectual developmental disorder, X-linked 63", "description": "Intellectual developmental disorder, X-linked 63" } ], "evidence": [ { "id": "0112050", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0112050" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ], "evidence": [ { "id": "10283", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1059", "recommended_name": { "id": "DOID:1059", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills." }, "synonyms": [], "evidence": [ { "id": "1059", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "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": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "evidence": [ { "id": "1324", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:14501", "recommended_name": { "id": "DOID:14501", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14501", "name": "Sjogren-Larsson syndrome", "description": "A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11." }, "synonyms": [ { "id": "DOID:14501", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14501", "name": "FALDH deficiency", "description": "" }, { "id": "DOID:14501", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14501", "name": "SLS", "description": "" }, { "id": "DOID:14501", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14501", "name": "Sjogren Larsson syndrome", "description": "" }, { "id": "DOID:14501", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14501", "name": "Sjogren-Larsson's syndrome", "description": "" }, { "id": "DOID:14501", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14501", "name": "fatty acid alcohol oxidoreductase deficiency", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "Sjogren-Larsson syndrome", "description": "A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity." }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "SLS", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "Sjogren Larsson syndrome", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "Sjogren-Larsson syndrome", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "Sjogren-Larsson's syndrome", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "fatty acid alcohol oxidoreductase deficiency", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "FADH deficiency", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "FALDH deficiency", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "FAO deficiency", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "Sjgren-Larsson syndrome", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "fatty alcohol:NAD+ oxidoreductase deficiency", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "fatty aldehyde dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "ichthyosis, spastic neurologic disorder, and oligophrenia", "description": "" }, { "id": "MIM:270200", "resource": "MIM", "url": "https://www.omim.org/entry/270200", "name": "Sjoegren-Larsson syndrome", "description": "Sjoegren-Larsson syndrome" } ], "evidence": [ { "id": "14501", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14501" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "evidence": [ { "id": "1612", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:2841", "recommended_name": { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing." }, "synonyms": [ { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "Exercise induced asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "bronchial hyperreactivity", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with acute exacerbation", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with status asthmaticus", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "exercise-induced asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "inherited susceptibility to asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, nocturnal, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, bronchial", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, diminished response to Antileukotriene treatment 1N", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, protection against", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma-related traits, susceptibility to", "description": "" }, { "id": "MIM:600807", "resource": "MIM", "url": "https://www.omim.org/entry/600807", "name": "Asthma", "description": "Asthma" } ], "evidence": [ { "id": "2841", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "Acsl", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "locus": { "chromosome": "2R", "start_pos": 8683022, "end_pos": 8665813, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0263120", "url": "https://www.ensembl.org/id/FBgn0263120" } ] } } ], "crossref": [ { "id": "FBgn0263120", "url": "https://bgee.org/?page=gene&gene_id=FBgn0263120", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd17639", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd17639", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBgn0263120", "url": "https://flybase.org/reports/FBgn0263120", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "46068", "url": "https://www.ncbi.nlm.nih.gov/gene/46068", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR000873", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000873", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020845", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020845", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR025110", "url": "https://www.ebi.ac.uk/interpro/entry/IPR025110", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042099", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042099", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045851", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045851", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG8732", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG8732", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "GEGEKMP", "url": "https://omabrowser.org/oma/group/GEGEKMP/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "443463at2759", "url": "http://www.orthodb.org/?query=443463at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR43272", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43272", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43272:SF83", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43272:SF83", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00501", "url": "http://pfam.xfam.org/family/PF00501", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13193", "url": "http://pfam.xfam.org/family/PF13193", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "R-DME-434313", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-434313", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-75876", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-75876", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001260810", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260810", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0B4KFE4-1", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1Z7H2", "url": "https://www.uniprot.org/uniprot/A1Z7H2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1Z7H2-1", "url": "https://www.uniprot.org/uniprot/A1Z7H2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1Z7H3", "url": "https://www.uniprot.org/uniprot/A1Z7H3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1Z7H3-1", "url": "https://www.uniprot.org/uniprot/A1Z7H3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8T3L1", "url": "https://www.uniprot.org/uniprot/Q8T3L1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8T3L1-1", "url": "https://www.uniprot.org/uniprot/Q8T3L1-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDSFWVQSAIGAIKAIAFVYDIITLPVYLVLQKPWKRRQDSRRVKAKPINQKMLVDESKYAPDDIEAKIVRNDDNELTYRTTDPPRDVHVKMLQENIDTLEKVFNYVAKTYTSKRCLGTRQILSEEDEVQQNGRVFKKYNLGDYKWKTFTEAERTAANFGRGLRELGQKPRENIVIFAETRAEWMIAAHGCFKQAMPIVTVYATLGDDGVAHCITETEVTTVITSHDLLPKFKTLLDKCPLVKTIIYIEDQLQKTETTGFKEGVKILPFNQVVKTGQDSKFEHVPPKGDDIAIIMYTSGSTGTPKGVLLSHKNCIATMKGFVDMVPIYPDDVLIGFLPLAHVFELVAESVCLMTGVPIGYSTPLTLIDTSSKIKRGCKGDATVLKPTCMTSVPLILDRISKGINDKVNSGSAFKKSLFKFLYQYKVKWVQRGYKTPLIDKLVFKKVAKLMGGKVRIIMSGGAPLSADTHEQIKTCLCLELIQGYGLTETTSGATVMDYRDMTYGRTGGPLTVCDIRLVNWEEGNYRVTNKPYPQGEVLIGGECVSQGYYKLPGKTNEDFFEEDGQRWFKTGDIGEIQADGVLKIIDRKKDLVKLQAGEYVSLGKVESELKTCGIIENICVYGDPTKQYTVALVVPNQNHLEELAQKHGLGDKSFEELCSSPIIEKAILKEIAEHARKCKLQKYEVPAAITLCKEVWSPDMGLVTAAFKLKRKDIQDRYQHDINRMYAS", "length": 728, "header": "tr|A0A0B4KFE4-1|A0A0B4KFE4_DROME Isoform 1 of Acyl-CoA synthetase long-chain, isoform J OS=Drosophila melanogaster OX=7227 GN=Acsl PE=1 SV=1 CANONICAL=A0A0B4KFE4-1" }, "isoforms": [ { "isoform_ac": "A0A0B4KFE4-1", "url": "", "sequence": { "sequence": "MDSFWVQSAIGAIKAIAFVYDIITLPVYLVLQKPWKRRQDSRRVKAKPINQKMLVDESKYAPDDIEAKIVRNDDNELTYRTTDPPRDVHVKMLQENIDTLEKVFNYVAKTYTSKRCLGTRQILSEEDEVQQNGRVFKKYNLGDYKWKTFTEAERTAANFGRGLRELGQKPRENIVIFAETRAEWMIAAHGCFKQAMPIVTVYATLGDDGVAHCITETEVTTVITSHDLLPKFKTLLDKCPLVKTIIYIEDQLQKTETTGFKEGVKILPFNQVVKTGQDSKFEHVPPKGDDIAIIMYTSGSTGTPKGVLLSHKNCIATMKGFVDMVPIYPDDVLIGFLPLAHVFELVAESVCLMTGVPIGYSTPLTLIDTSSKIKRGCKGDATVLKPTCMTSVPLILDRISKGINDKVNSGSAFKKSLFKFLYQYKVKWVQRGYKTPLIDKLVFKKVAKLMGGKVRIIMSGGAPLSADTHEQIKTCLCLELIQGYGLTETTSGATVMDYRDMTYGRTGGPLTVCDIRLVNWEEGNYRVTNKPYPQGEVLIGGECVSQGYYKLPGKTNEDFFEEDGQRWFKTGDIGEIQADGVLKIIDRKKDLVKLQAGEYVSLGKVESELKTCGIIENICVYGDPTKQYTVALVVPNQNHLEELAQKHGLGDKSFEELCSSPIIEKAILKEIAEHARKCKLQKYEVPAAITLCKEVWSPDMGLVTAAFKLKRKDIQDRYQHDINRMYAS", "length": 728, "header": "tr|A0A0B4KFE4-1|A0A0B4KFE4_DROME Isoform 1 of Acyl-CoA synthetase long-chain, isoform J OS=Drosophila melanogaster OX=7227 GN=Acsl PE=1 SV=1 CANONICAL=A0A0B4KFE4-1" }, "locus": { "chromosome": "2R", "start_pos": 8681602, "end_pos": 8676473, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0333001", "url": "https://www.ensembl.org/id/FBtr0333001" }, { "database": "Ensembl Peptide", "id": "FBpp0305216", "url": "https://www.ensembl.org/id/FBpp0305216" } ] } }, { "isoform_ac": "A1Z7H2-1", "url": "", "sequence": { "sequence": "MKYNSLSYCVMDSFWVQSAIGAIKAIAFVYDIITLPVYLVLQKPWKRRQDSRRVKAKIVRNDDNELTYRTTDPPRDVHVKMLQENIDTLEKVFNYVAKTYTSKRCLGTRQILSEEDEVQQNGRVFKKYNLGDYKWKTFTEAERTAANFGRGLRELGQKPRENIVIFAETRAEWMIAAHGCFKQAMPIVTVYATLGDDGVAHCITETEVTTVITSHDLLPKFKTLLDKCPLVKTIIYIEDQLQKTETTGFKEGVKILPFNQVVKTGQDSKFEHVPPKGDDIAIIMYTSGSTGTPKGVLLSHKNCIATMKGFVDMVPIYPDDVLIGFLPLAHVFELVAESVCLMTGVPIGYSTPLTLIDTSSKIKRGCKGDATVLKPTCMTSVPLILDRISKGINDKVNSGSAFKKSLFKFLYQYKVKWVQRGYKTPLIDKLVFKKVAKLMGGKVRIIMSGGAPLSADTHEQIKTCLCLELIQGYGLTETTSGATVMDYRDMTYGRTGGPLTVCDIRLVNWEEGNYRVTNKPYPQGEVLIGGECVSQGYYKLPGKTNEDFFEEDGQRWFKTGDIGEIQADGVLKIIDRKKDLVKLQAGEYVSLGKVESELKTCGIIENICVYGDPTKQYTVALVVPNQNHLEELAQKHGLGDKSFEELCSSPIIEKAILKEIAEHARKCKLQKYEVPAAITLCKEVWSPDMGLVTAAFKLKRKDIQDRYQHDINRMYAS", "length": 717, "header": "tr|A1Z7H2-1|A1Z7H2_DROME Computationally mapped isoform of Acyl-CoA synthetase long-chain, isoform D OS=Drosophila melanogaster OX=7227 GN=Acsl PE=1 SV=1 CANONICAL=A0A0B4KFE4-1" }, "locus": { "chromosome": "2R", "start_pos": 8681602, "end_pos": 8666283, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0100426", "url": "https://www.ensembl.org/id/FBtr0100426" }, { "database": "Ensembl Peptide", "id": "FBpp0099845", "url": "https://www.ensembl.org/id/FBpp0099845" } ] } }, { "isoform_ac": "A1Z7H3-1", "url": "", "sequence": { "sequence": "MDSFWVQSAIGAIKAIAFVYDIITLPVYLVLQKPWKRRQDSRRVKAKIVRNDDNELTYRTTDPPRDVHVKMLQENIDTLEKVFNYVAKTYTSKRCLGTRQILSEEDEVQQNGRVFKKYNLGDYKWKTFTEAERTAANFGRGLRELGQKPRENIVIFAETRAEWMIAAHGCFKQAMPIVTVYATLGDDGVAHCITETEVTTVITSHDLLPKFKTLLDKCPLVKTIIYIEDQLQKTETTGFKEGVKILPFNQVVKTGQDSKFEHVPPKGDDIAIIMYTSGSTGTPKGVLLSHKNCIATMKGFVDMVPIYPDDVLIGFLPLAHVFELVAESVCLMTGVPIGYSTPLTLIDTSSKIKRGCKGDATVLKPTCMTSVPLILDRISKGINDKVNSGSAFKKSLFKFLYQYKVKWVQRGYKTPLIDKLVFKKVAKLMGGKVRIIMSGGAPLSADTHEQIKTCLCLELIQGYGLTETTSGATVMDYRDMTYGRTGGPLTVCDIRLVNWEEGNYRVTNKPYPQGEVLIGGECVSQGYYKLPGKTNEDFFEEDGQRWFKTGDIGEIQADGVLKIIDRKKDLVKLQAGEYVSLGKVESELKTCGIIENICVYGDPTKQYTVALVVPNQNHLEELAQKHGLGDKSFEELCSSPIIEKAILKEIAEHARKCKLQKYEVPAAITLCKEVWSPDMGLVTAAFKLKRKDIQDRYQHDINRMYAS", "length": 707, "header": "tr|A1Z7H3-1|A1Z7H3_DROME Computationally mapped isoform of Acyl-CoA synthetase long-chain, isoform C OS=Drosophila melanogaster OX=7227 GN=Acsl PE=1 SV=1 CANONICAL=A0A0B4KFE4-1" }, "locus": { "chromosome": "2R", "start_pos": 8681602, "end_pos": 8676473, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0100431", "url": "https://www.ensembl.org/id/FBtr0100431" }, { "database": "Ensembl Peptide", "id": "FBpp0099850", "url": "https://www.ensembl.org/id/FBpp0099850" } ] } }, { "isoform_ac": "Q8T3L1-1", "url": "", "sequence": { "sequence": "MFIEDDAQMDSFWVQSAIGAIKAIAFVYDIITLPVYLVLQKPWKRRQDSRRVKAKIVRNDDNELTYRTTDPPRDVHVKMLQENIDTLEKVFNYVAKTYTSKRCLGTRQILSEEDEVQQNGRVFKKYNLGDYKWKTFTEAERTAANFGRGLRELGQKPRENIVIFAETRAEWMIAAHGCFKQAMPIVTVYATLGDDGVAHCITETEVTTVITSHDLLPKFKTLLDKCPLVKTIIYIEDQLQKTETTGFKEGVKILPFNQVVKTGQDSKFEHVPPKGDDIAIIMYTSGSTGTPKGVLLSHKNCIATMKGFVDMVPIYPDDVLIGFLPLAHVFELVAESVCLMTGVPIGYSTPLTLIDTSSKIKRGCKGDATVLKPTCMTSVPLILDRISKGINDKVNSGSAFKKSLFKFLYQYKVKWVQRGYKTPLIDKLVFKKVAKLMGGKVRIIMSGGAPLSADTHEQIKTCLCLELIQGYGLTETTSGATVMDYRDMTYGRTGGPLTVCDIRLVNWEEGNYRVTNKPYPQGEVLIGGECVSQGYYKLPGKTNEDFFEEDGQRWFKTGDIGEIQADGVLKIIDRKKDLVKLQAGEYVSLGKVESELKTCGIIENICVYGDPTKQYTVALVVPNQNHLEELAQKHGLGDKSFEELCSSPIIEKAILKEIAEHARKCKLQKYEVPAAITLCKEVWSPDMGLVTAAFKLKRKDIQDRYQHDINRMYAS", "length": 715, "header": "tr|Q8T3L1-1|A0A0B4KFE4_DROME Computationally mapped isoform of Acyl-CoA synthetase long-chain, isoform J OS=Drosophila melanogaster OX=7227 GN=Acsl PE=1 SV=1 CANONICAL=A0A0B4KFE4-1" }, "locus": { "chromosome": "2R", "start_pos": 8681602, "end_pos": 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The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

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The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

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