{ "uniprot_canonical_ac": "Q9VS84-1", "uniprot_ac": "Q9VS84", "uniprot_id": "Q9VS84_DROME", "mass": { "chemical_mass": 90823.0, "monoisotopic_mass": 90823.0 }, "refseq": { "ac": "NP_001261524", "name": "larval translucida, isoform B", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001261524" }, "gene_names": [ { "name": "ltl", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9VS84", "id": "Q9VS84" }, { "name": "CG14836", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VS84", "id": "Q9VS84" }, { "name": "CG32372-RA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VS84", "id": "Q9VS84" }, { "name": "CG32372", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VS84", "id": "Q9VS84" }, { "name": "CG7545", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VS84", "id": "Q9VS84" }, { "name": "CT15760", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VS84", "id": "Q9VS84" }, { "name": "Dmel\\CG32372", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VS84", "id": "Q9VS84" }, { "name": "Dmel_CG32372", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VS84", "id": "Q9VS84" }, { "name": "F", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VS84", "id": "Q9VS84" }, { "name": "Ltl", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VS84", "id": "Q9VS84" }, { "name": "anon-EST:CL1a11; CG14836; CG32372; CG7545; CT15760; Dmel\\CG32372; F; l(3)tr; lincRNA.S4366; Ltl", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001261524", "id": "NP_001261524" }, { "name": "anon-EST:CL1a11", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VS84", "id": "Q9VS84" }, { "name": "l(3)tr", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VS84", "id": "Q9VS84" }, { "name": "lincRNA.S4366", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VS84", "id": "Q9VS84" }, { "name": "ltl", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001261524", "id": "NP_001261524" } ], "protein_names": [ { "name": "CG32372-PB; ltl-PB; lethal (3) translucida; lethal translucida", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001261524", "id": "NP_001261524" }, { "name": "FI03225p", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9VS84" }, { "name": "Larval translucida, isoform A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9VS84" }, { "name": "Larval translucida, isoform B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9VS84" }, { "name": "larval translucida, isoform B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001261524", "id": "NP_001261524" } ], "function": [], "disease": [ { "disease_id": "DOID:0060870", "recommended_name": { "id": "DOID:0060870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060870", "name": "isolated growth hormone deficiency", "description": "A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones." }, "synonyms": [ { "id": "DOID:0060870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060870", "name": "IGHD", "description": "" }, { "id": "DOID:0060870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060870", "name": "congenital IGHD", "description": "" }, { "id": "DOID:0060870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060870", "name": "congenital isolated GH deficiency", "description": "" }, { "id": "DOID:0060870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060870", "name": "congenital isolated growth hormone deficiency", "description": "" }, { "id": "DOID:0060870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060870", "name": "familial isolated growth hormone deficiency", "description": "" }, { "id": "DOID:0060870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060870", "name": "non-acquired isolated growth hormone deficiency", "description": "" } ], "evidence": [ { "id": "0060870", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060870" } ] }, { "disease_id": "DOID:0080552", "recommended_name": { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080552", "name": "congenital disorder of glycosylation Ia", "description": "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080552", "name": "PMM2-congenital disorder of glycosylation", "description": "" }, { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080552", "name": "congenital disorder of glycosylation 1a", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG-IA", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate deficient glycoprotein syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type 1a", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "phosphomannomutase 2 deficiency", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "Jaeken syndrome", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG (CDG-Ia)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome, type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome, type Ia, formerly", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation, type Ia", "description": "" }, { "id": "MIM:212065", "resource": "MIM", "url": "https://www.omim.org/entry/212065", "name": "Congenital disorder of glycosylation 1A", "description": "Congenital disorder of glycosylation 1A" } ], "evidence": [ { "id": "0080552", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "disease_id": "DOID:10873", "recommended_name": { "id": "DOID:10873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "" }, "synonyms": [ { "id": "DOID:10873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10873", "name": "Exudative senile macular degeneration of retina", "description": "" }, { "id": "DOID:10873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10873", "name": "Neovascular age-related macular degeneration", "description": "" }, { "id": "DOID:10873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10873", "name": "Senile macular degeneration, wet", "description": "" }, { "id": "DOID:10873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10873", "name": "Wet senile macular retinal degeneration", "description": "" } ], "evidence": [ { "id": "10873", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ] }, { "disease_id": "DOID:11166", "recommended_name": { "id": "DOID:11166", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact." }, "synonyms": [ { "id": "DOID:11166", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11166", "name": "HPV", "description": "" } ], "evidence": [ { "id": "11166", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ] }, { "disease_id": "DOID:11168", "recommended_name": { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." }, "synonyms": [ { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "Anogenital warts", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "Genital warts", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "Anogenital Human papilloma Virus Infectious Disease", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "genital wart virus infectious disease", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "venereal wart", "description": "" } ], "evidence": [ { "id": "11168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ] }, { "disease_id": "DOID:1184", "recommended_name": { "id": "DOID:1184", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability." }, "synonyms": [], "evidence": [ { "id": "1184", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ] }, { "disease_id": "DOID:13241", "recommended_name": { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behcet's disease", "description": "A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis." }, "synonyms": [ { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Adamantiades-Behcet disease", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behcet syndrome", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behet's syndrome", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "triple symptom complex", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet disease", "description": "A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations." }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Adamantiades-Behcet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Bechet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet's syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet's syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet-Adamantiades syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Morbus Behet's syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "silk road disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "triple symptom complex", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "BD", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet's disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet's disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behets disease", "description": "" } ], "evidence": [ { "id": "13241", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ] }, { "disease_id": "DOID:1520", "recommended_name": { "id": "DOID:1520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." }, "synonyms": [ { "id": "DOID:1520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1520", "name": "Colonic carcinoma", "description": "" }, { "id": "DOID:1520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1520", "name": "carcinoma of colon", "description": "" } ], "evidence": [ { "id": "1520", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ] }, { "disease_id": "DOID:1883", "recommended_name": { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "hepatitis C", "description": "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepacivirus hominis, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." }, "synonyms": [ { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "NANBH", "description": "" }, { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "Viral hepatitis C", "description": "" }, { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "chronic hepatitis C", "description": "" }, { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "hepatitis C infection", "description": "" }, { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "hepatitis nonA nonB", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "hepatitis C virus infection", "description": "A viral infection caused by the hepatitis C virus." }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "Hepatitis C virus caused hepatitis", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "Hepatitis C virus hepatitis", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "NANBH", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "hepatitis C infection", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "hepatitis Nona nonB", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "hepatitis type C", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "non-A, non-B Hepatitis", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "viral hepatitis C", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "chronic hepatitis C", "description": "" } ], "evidence": [ { "id": "1883", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ] }, { "disease_id": "DOID:2043", "recommended_name": { "id": "DOID:2043", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2043", "name": "hepatitis B", "description": "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice." }, "synonyms": [ { "id": "DOID:2043", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2043", "name": "chronic hepatitis B", "description": "" }, { "id": "DOID:2043", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2043", "name": "hepatitis B infection", "description": "" } ], "evidence": [ { "id": "2043", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ] }, { "disease_id": "DOID:2217", "recommended_name": { "id": "DOID:2217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2217", "name": "Bernard-Soulier syndrome", "description": "A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib." }, "synonyms": [ { "id": "DOID:2217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2217", "name": "Bernard - Soulier thrombopathy", "description": "" }, { "id": "DOID:2217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2217", "name": "Bernard Soulier syndrome", "description": "" }, { "id": "DOID:2217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2217", "name": "Giant platelet syndrome", "description": "" }, { "id": "DOID:2217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2217", "name": "Hemorrhagic dystrophic thrombocytopenia", "description": "" }, { "id": "DOID:2217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2217", "name": "Thrombopathy, Bernard-Soulier", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Bernard-Soulier syndrome", "description": "Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination." }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Bernard - Soulier thrombopathy", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Bernard Soulier syndrome", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Bernard-Soulier syndrome", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Bernard-Soulier syndrome, type A1 (recessive)", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Hemorrhagiparous thrombocytic dystrophy", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "giant platelet disorder, isolated", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "giant platelet syndrome", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "hemorrhagic dystrophic thrombocytopenia", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "thrombopathy, Bernard-Soulier", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "BSS", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Bernard-Soulier syndrome, type A1", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Bernard-Soulier syndrome, type B", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Bernard-Soulier syndrome, type C", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Platelet glycoprotein 1b, deficiency of", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Platelet glycoprotein Ib deficiency", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "Von Willebrand Factor receptor deficiency", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "bleeding disorder, Platelet-type, 1", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "deficiency of platelet glycoprotein 1b", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "giant platelet disease", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "glycoprotein Ib, Platelet, deficiency of", "description": "" }, { "id": "MONDO:0009276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009276", "name": "macrothrombocytopenia, familial Bernard-Soulier type", "description": "" }, { "id": "MIM:231200", "resource": "MIM", "url": "https://www.omim.org/entry/231200", "name": "Bernard-Soulier syndrome", "description": "Bernard-Soulier syndrome" } ], "evidence": [ { "id": "2217", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2217" } ] }, { "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" } ] }, { "disease_id": "DOID:3490", "recommended_name": { "id": "DOID:3490", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3490", "name": "Noonan syndrome", "description": "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms." }, "synonyms": [ { "id": "DOID:3490", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3490", "name": "Turner's phenotype, karyotype normal", "description": "" }, { "id": "MONDO:0008104", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008104", "name": "Noonan syndrome 1", "description": "Noonan syndrome caused by mutations in the PTPN11 gene." }, { "id": "MONDO:0008104", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008104", "name": "NS1", "description": "" }, { "id": "MONDO:0008104", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008104", "name": "Noonan syndrome 1", "description": "" }, { "id": "MONDO:0008104", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008104", "name": "Noonan syndrome type 1", "description": "" }, { "id": "MONDO:0008104", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008104", "name": "Male Turner syndrome", "description": "" }, { "id": "MONDO:0008104", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008104", "name": "Noonan syndrome", "description": "" }, { "id": "MONDO:0008104", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008104", "name": "Turner phenotype with normal karyotype", "description": "" }, { "id": "MONDO:0008104", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008104", "name": "female pseudo-Turner syndrome", "description": "" }, { "id": "MONDO:0008104", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008104", "name": "pterygium colli syndrome", "description": "" }, { "id": "MIM:163950", "resource": "MIM", "url": "https://www.omim.org/entry/163950", "name": "Noonan syndrome 1", "description": "Noonan syndrome 1" } ], "evidence": [ { "id": "3490", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3490" } ] }, { "disease_id": "DOID:5082", "recommended_name": { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "liver cirrhosis", "description": "" }, "synonyms": [ { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "Cirrhosis", "description": "" }, { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "liver cirrhosis", "description": "" } ], "evidence": [ { "id": "5082", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ] }, { "disease_id": "DOID:526", "recommended_name": { "id": "DOID:526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands." }, "synonyms": [ { "id": "DOID:526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:526", "name": "HIV infection", "description": "" } ], "evidence": [ { "id": "526", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:526" } ] }, { "disease_id": "DOID:5614", "recommended_name": { "id": "DOID:5614", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye." }, "synonyms": [], "evidence": [ { "id": "5614", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ] }, { "disease_id": "DOID:612", "recommended_name": { "id": "DOID:612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:612", "name": "primary immunodeficiency disease", "description": "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation." }, "synonyms": [ { "id": "DOID:612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:612", "name": "hypoimmunity", "description": "" }, { "id": "DOID:612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:612", "name": "immune deficiency disorder", "description": "" }, { "id": "DOID:612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:612", "name": "immunodeficiency syndrome", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "Bruton-type agammaglobulinemia", "description": "X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy." }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "BTK deficiency", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "BTK-deficiency", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "Bruton agammaglobulinemia tyrosine kinase deficiency", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "Bruton type agammaglobulinemia", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "Bruton's Sex-linked agammaglobulinemia", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "Bruton's X-linked agammaglobulinemia", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "Bruton's agammaglobulinaemia", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "Bruton's type agammaglobulinemia", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "Bruton-type agammaglobulinemia", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "X-linked agammaglobulinemia", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "agammaglobulinemia, X-linked 1, X-linked recessive", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "Bruton's agammaglobulinemia", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "XLA", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "agammaglobulinemia, BTK", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "agammaglobulinemia, Bruton tyrosine kinase", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "agammaglobulinemia, X-linked", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "agammaglobulinemia, X-linked, type 1", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "hypogammaglobulinemia, X-linked", "description": "" }, { "id": "MONDO:0010421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010421", "name": "immunodeficiency 1", "description": "" }, { "id": "MONDO:0009453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009453", "name": "immune deficiency disease", "description": "" }, { "id": "MONDO:0009453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009453", "name": "immune deficiency disease", "description": "" }, { "id": "MIM:300755", "resource": "MIM", "url": "https://www.omim.org/entry/300755", "name": "X-linked agammaglobulinemia", "description": "X-linked agammaglobulinemia" } ], "evidence": [ { "id": "612", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:612" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ], "evidence": [ { "id": "684", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:684" } ] }, { "disease_id": "DOID:7188", "recommended_name": { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "autoimmune thyroiditis", "description": "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues." }, "synonyms": [ { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Chronic Lymphocytic Thyroiditis", "description": "" }, { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Hashimoto thyroiditis", "description": "" }, { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Hashimoto's Disease", "description": "" }, { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Hashimoto's syndrome", "description": "" }, { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Hashimoto's thyroiditis", "description": "" }, { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Lymphocytic Thyroiditis", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto thyroiditis", "description": "An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism." }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "lymphocytic thyroiditis", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto disease", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto hypothyroidism", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto thyroiditis", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto's disease", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto's syndrome", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto's thyroiditis", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "chronic lymphocytic thyroiditis", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "HT", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto struma", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto syndrome", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto thyroiditides", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto's struma", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto's syndromes", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimotos disease", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimotos syndrome", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Ht", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "autoimmune thyroiditis", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "chronic lymphocytic thyroiditides", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "disease, Hashimoto", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "disease, Hashimoto's", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "hypothyroidism, autoimmune", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "hypothyroidism, autoimmune thyroid autoantibodies, included", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "lymphocytic thyroiditides, chronic", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "lymphocytic thyroiditis, chronic", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "syndrome, Hashimoto's", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "syndromes, Hashimoto's", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "thyroid autoantibodies", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "thyroiditides, Hashimoto", "description": "" }, { "id": "MONDO:0007699", 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"evidence": [ { "id": "8689", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8689" } ] }, { "disease_id": "DOID:9744", "recommended_name": { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production." }, "synonyms": [ { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "IDDM", "description": "" }, { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "type I diabetes mellitus", "description": "" }, { "id": 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"description": "Type 1 diabetes mellitus" } ], "evidence": [ { "id": "9744", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS84", "url": "https://www.uniprot.org/uniprot/Q9VS84" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "ltl", "url": "https://www.uniprot.org/uniprot/Q9VS84", "locus": { "chromosome": "3L", "start_pos": 7528013, "end_pos": 7518997, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0268063", "url": "https://www.ensembl.org/id/FBgn0268063" } ] } } ], "crossref": [ { "id": "FBgn0268063", "url": "https://bgee.org/?page=gene&gene_id=FBgn0268063", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "FBgn0268063", "url": "https://flybase.org/reports/FBgn0268063", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "38845", "url": "https://www.ncbi.nlm.nih.gov/gene/38845", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q9VS84", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9VS84*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001611", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001611", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003591", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003591", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR026906", "url": "https://www.ebi.ac.uk/interpro/entry/IPR026906", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032675", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032675", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG32372", "url": 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OS=Drosophila melanogaster OX=7227 GN=ltl PE=1 SV=2 CANONICAL=Q9VS84-1" }, "locus": { "chromosome": "3L", "start_pos": 7527044, "end_pos": 7519685, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0076793", "url": "https://www.ensembl.org/id/FBtr0076793" }, { "database": "Ensembl Peptide", "id": "FBpp0076507", "url": "https://www.ensembl.org/id/FBpp0076507" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "The genome sequence of Drosophila melanogaster.", "journal": "Science", "date": "2000", "authors": "Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, Sutton GG, Wortman JR, Yandell MD, Zhang Q, Chen LX, Brandon RC, Rogers YH, Blazej RG, Champe M, Pfeiffer BD, Wan KH, Doyle C, Baxter EG, Helt G, Nelson CR, Gabor GL, Abril JF, Agbayani A, An HJ, Andrews-Pfannkoch C, Baldwin D, Ballew RM, Basu A, Baxendale J, Bayraktaroglu L, Beasley EM, Beeson KY, Benos PV, Berman BP, Bhandari D, Bolshakov S, Borkova D, Botchan MR, Bouck J, Brokstein P, Brottier P, Burtis KC, Busam DA, Butler H, Cadieu E, Center A, Chandra I, Cherry JM, Cawley S, Dahlke C, Davenport LB, Davies P, de Pablos B, Delcher A, Deng Z, Mays AD, Dew I, Dietz SM, Dodson K, Doup LE, Downes M, Dugan-Rocha S, Dunkov BC, Dunn P, Durbin KJ, Evangelista CC, Ferraz C, Ferriera S, Fleischmann W, Fosler C, Gabrielian AE, Garg NS, Gelbart WM, Glasser K, Glodek A, Gong F, Gorrell JH, Gu Z, Guan P, Harris M, Harris NL, Harvey D, Heiman TJ, Hernandez JR, Houck J, Hostin D, Houston KA, Howland TJ, Wei MH, Ibegwam C, Jalali M, Kalush F, Karpen GH, Ke Z, Kennison JA, Ketchum KA, Kimmel BE, Kodira CD, Kraft C, Kravitz S, Kulp D, Lai Z, Lasko P, Lei Y, Levitsky AA, Li J, Li Z, Liang Y, Lin X, Liu X, Mattei B, McIntosh TC, McLeod MP, McPherson D, Merkulov G, Milshina NV, Mobarry C, Morris J, Moshrefi A, Mount SM, Moy M, Murphy B, Murphy L, Muzny DM, Nelson DL, Nelson DR, Nelson KA, Nixon K, Nusskern DR, Pacleb JM, Palazzolo M, Pittman GS, Pan S, Pollard J, Puri V, Reese MG, Reinert K, Remington K, Saunders RD, Scheeler F, Shen H, Shue BC, Siden-Kiamos I, Simpson M, Skupski MP, Smith T, Spier E, Spradling AC, Stapleton M, Strong R, Sun E, Svirskas R, Tector C, Turner R, Venter E, Wang AH, Wang X, Wang ZY, Wassarman DA, Weinstock GM, Weissenbach J, Williams SM, WoodageT, Worley KC, Wu D, Yang S, Yao QA, Ye J, Yeh RF, Zaveri JS, Zhan M, Zhang G, Zhao Q, Zheng L, Zheng XH, Zhong FN, Zhong W, Zhou X, Zhu S, Zhu X, Smith HO, Gibbs RA, Myers EW, Rubin GM, Venter JC", "evidence": [ { "database": "UniProtKB", "id": "Q9VS84", "url": "https://www.uniprot.org/uniprot/Q9VS84" } ], "reference": [ { "type": "PubMed", "id": "10731132", "url": "https://glygen.org/publication/PubMed/10731132" } ] }, { "title": "Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence.", "journal": "Genome Biol.", "date": "2002", "authors": "Celniker SE, Wheeler DA, Kronmiller B, Carlson JW, Halpern A, Patel S, Adams M, Champe M, Dugan SP, Frise E, Hodgson A, George RA, Hoskins RA, Laverty T, Muzny DM, Nelson CR, Pacleb JM, Park S, Pfeiffer BD, Richards S, Sodergren EJ, Svirskas R, Tabor PE, Wan K, Stapleton M, Sutton GG, Venter C, Weinstock G, Scherer SE, Myers EW, Gibbs RA, Rubin GM", "evidence": [ { "database": "UniProtKB", "id": "Q9VS84", "url": "https://www.uniprot.org/uniprot/Q9VS84" } ], "reference": [ { "type": "PubMed", "id": "12537568", "url": "https://glygen.org/publication/PubMed/12537568" } ] }, { "title": "Annotation of the Drosophila melanogaster euchromatic genome: a systematic review.", "journal": "Genome Biol.", "date": "2002", "authors": "Misra S, Crosby MA, Mungall CJ, Matthews BB, Campbell KS, Hradecky P, Huang Y, Kaminker JS, Millburn GH, Prochnik SE, Smith CD, Tupy JL, Whitfied EJ, Bayraktaroglu L, Berman BP, Bettencourt BR, Celniker SE, de Grey AD, Drysdale RA, Harris NL, Richter J, Russo S, Schroeder AJ, Shu SQ, Stapleton M, Yamada C, Ashburner M, Gelbart WM, Rubin GM, Lewis SE", "evidence": [ { "database": "UniProtKB", "id": "Q9VS84", "url": "https://www.uniprot.org/uniprot/Q9VS84" } ], "reference": [ { "type": "PubMed", "id": "12537572", "url": "https://glygen.org/publication/PubMed/12537572" } ] }, { "title": "The transposable elements of the Drosophila melanogaster euchromatin: a genomics perspective.", "journal": "Genome Biol.", "date": "2002", "authors": "Kaminker JS, Bergman CM, Kronmiller B, Carlson J, Svirskas R, Patel S, Frise E, Wheeler DA, Lewis SE, Rubin GM, Ashburner M, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "Q9VS84", "url": "https://www.uniprot.org/uniprot/Q9VS84" } ], "reference": [ { "type": "PubMed", "id": "12537573", "url": "https://glygen.org/publication/PubMed/12537573" } ] }, { "title": "Heterochromatic sequences in a Drosophila whole-genome shotgun assembly.", "journal": "Genome Biol.", "date": "2002", "authors": "Hoskins RA, Smith CD, Carlson JW, Carvalho AB, Halpern A, Kaminker JS, Kennedy C, Mungall CJ, Sullivan BA, Sutton GG, Yasuhara JC, Wakimoto BT, Myers EW, Celniker SE, Rubin GM, Karpen GH", "evidence": [ { "database": "UniProtKB", "id": "Q9VS84", "url": "https://www.uniprot.org/uniprot/Q9VS84" } ], "reference": [ { "type": "PubMed", "id": "12537574", "url": "https://glygen.org/publication/PubMed/12537574" } ] }, { "title": "Combined evidence annotation of transposable elements in genome sequences.", "journal": "PLoS Comput. Biol.", "date": "2005", "authors": "Quesneville H, Bergman CM, Andrieu O, Autard D, Nouaud D, Ashburner M, Anxolabehere D", "evidence": [ { "database": "UniProtKB", "id": "Q9VS84", "url": "https://www.uniprot.org/uniprot/Q9VS84" } ], "reference": [ { "type": "PubMed", "id": "16110336", "url": "https://glygen.org/publication/PubMed/16110336" } ] }, { "title": "The Release 5.1 annotation of Drosophila melanogaster heterochromatin.", "journal": "Science", "date": "2007", "authors": "Smith CD, Shu S, Mungall CJ, Karpen GH", "evidence": [ { "database": "UniProtKB", "id": "Q9VS84", "url": "https://www.uniprot.org/uniprot/Q9VS84" } ], "reference": [ { "type": "PubMed", "id": "17569856", "url": "https://glygen.org/publication/PubMed/17569856" } ] }, { "title": "Sequence finishing and mapping of Drosophila melanogaster heterochromatin.", "journal": "Science", "date": "2007", "authors": "Hoskins RA, Carlson JW, Kennedy C, Acevedo D, Evans-Holm M, Frise E, Wan KH, Park S, Mendez-Lago M, Rossi F, Villasante A, Dimitri P, Karpen GH, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "Q9VS84", "url": "https://www.uniprot.org/uniprot/Q9VS84" } ], "reference": [ { "type": "PubMed", "id": "17569867", "url": "https://glygen.org/publication/PubMed/17569867" } ] }, { "title": "The Release 6 reference sequence of the Drosophila melanogaster genome.", "journal": "Genome Res.", "date": "2015", "authors": "Hoskins RA, Carlson JW, Wan KH, Park S, Mendez I, Galle SE, Booth BW, Pfeiffer BD, George RA, Svirskas R, Krzywinski M, Schein J, Accardo MC, Damia E, Messina G, Mendez-Lago M, de Pablos B, Demakova OV, Andreyeva EN, Boldyreva LV, Marra M, Carvalho AB, Dimitri P, Villasante A, Zhimulev IF, Rubin GM, Karpen GH, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "Q9VS84", "url": "https://www.uniprot.org/uniprot/Q9VS84" } ], "reference": [ { "type": "PubMed", "id": "25589440", "url": "https://glygen.org/publication/PubMed/25589440" } ] }, { "title": "Gene Model 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