{ "uniprot_canonical_ac": "Q9VU78-1", "uniprot_ac": "Q9VU78", "uniprot_id": "Q9VU78_DROME", "mass": { "chemical_mass": 31471.0, "monoisotopic_mass": 31471.0 }, "refseq": { "ac": "NP_648652", "name": "uncharacterized protein", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_648652" }, "gene_names": [ { "name": "Dmel\\CG10116", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9VU78", "id": "Q9VU78" }, { "name": "CG10116", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_648652", "id": "NP_648652" }, { "name": "CG10116", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VU78", "id": "Q9VU78" }, { "name": "Dmel\\CG10116", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_648652", "id": "NP_648652" }, { "name": "Dmel_CG10116", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VU78", "id": "Q9VU78" } ], "protein_names": [ { "name": "Lipase domain-containing protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9VU78" }, { "name": "CG10116-PA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_648652", "id": "NP_648652" }, { "name": "uncharacterized protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_648652", "id": "NP_648652" } ], "function": [ { "annotation": "Vitellogenin is the major yolk protein of eggs where it is used as a food source during embryogenesis.", "evidence": [ { "database": "UniProtKB", "id": "Q9VU78", "url": "https://www.uniprot.org/uniprot/Q9VU78#function" }, { "database": "UniProtKB", "id": "ARBA00004009", "url": "https://www.uniprot.org/uniprot/ARBA00004009#function" } ] } ], "disease": [ { "disease_id": "DOID:0080000", "recommended_name": { "id": "DOID:0080000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080000", "name": "muscular disease", "description": "A musculoskeletal system disease that affects the muscles." }, "synonyms": [], "evidence": [ { "id": "0080000", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080000" } ] }, { "disease_id": "DOID:0080208", "recommended_name": { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are:(1) Body mass index 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents.(2) Fasting serum glucose 5.6 mmol/L, 2-hr post-load glucose levels 7.8 mmol/L, glycated hemoglobin (HbA1c) 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose 11.1 mmol/L (pediatric only).(3) Blood pressure lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age 13 years); or specific hypertensive drug treatment.(4) Plasma triglycerides 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age 10 years); or lipid lowering treatment.(5) Plasma high-density lipoprotein cholesterol 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment." }, "synonyms": [ { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "non-alcoholic fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "NAFLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-associated fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-related steatotic liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "MAFLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "MASLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic-associated fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "nonalcoholic fatty liver disease", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "fatty liver disease, nonalcoholic, susceptibility to, 2", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "NAFLD2", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "fatty liver disease, nonalcoholic, susceptibility to, 2", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "NAFLD1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "NAFLD1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "fatty liver disease, nonalcoholic, susceptibility to, 1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "liver disease, alcoholic, susceptibility to, 1", "description": "" }, { "id": "MIM:613282", "resource": "MIM", "url": "https://www.omim.org/entry/613282", "name": "Non-alcoholic fatty liver disease 1", "description": "Non-alcoholic fatty liver disease 1" } ], "evidence": [ { "id": "0080208", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ] }, { "disease_id": "DOID:0110704", "recommended_name": { "id": "DOID:0110704", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110704", "name": "hypotrichosis 7", "description": "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2." }, "synonyms": [ { "id": "DOID:0110704", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110704", "name": "Hypt7", "description": "" }, { "id": "DOID:0110704", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110704", "name": "Lah2", "description": "" }, { "id": "DOID:0110704", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110704", "name": "hypotrichosis, localized, autosomal recessive 2", "description": "" }, { "id": "DOID:0110704", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110704", "name": "total Mari type hypotrichosis,", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "hypotrichosis 7", "description": "Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene." }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "HYPT7", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "LIPH hypotrichosis", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "Lah2", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "hypotrichosis 7", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "hypotrichosis caused by mutation in LIPH", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "hypotrichosis type 7", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "hypotrichosis, localized, autosomal recessive 2", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "total Mari type hypotrichosis,", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "woolly hair, autosomal recessive 2 with or without hypotrichosis", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "wooly hair, autosomal recessive 2 with or without hypotrichosis", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "Mari type alopecia universalis congenita", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "Wh/Ht", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "alopecia universalis congenita, Mari type", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "hypotrichosis, autosomal recessive", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "hypotrichosis, total, Mari type", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "total hypotrichosis, Mari type", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "woolly hair, autosomal recessive 2, with or without hypotrichosis", "description": "" }, { "id": "MONDO:0011452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011452", "name": "wooly hair, autosomal recessive 2, with or without hypotrichosis", "description": "" }, { "id": "MIM:604379", "resource": "MIM", "url": "https://www.omim.org/entry/604379", "name": "Hypotrichosis 7", "description": "Hypotrichosis 7" } ], "evidence": [ { "id": "0110704", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110704" } ] }, { "disease_id": "DOID:10652", "recommended_name": { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." }, "synonyms": [ { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer disease", "description": "" }, { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimers dementia", "description": "" } ], "evidence": [ { "id": "10652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries." }, "synonyms": [ { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "HTN", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hyperpiesia", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "vascular hypertensive disorder", "description": "" } ], "evidence": [ { "id": "10763", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ] }, { "disease_id": "DOID:1168", "recommended_name": { "id": "DOID:1168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1168", "name": "familial hyperlipidemia", "description": "" }, "synonyms": [ { "id": "DOID:1168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1168", "name": "familial hyperlipoproteinemia", "description": "" }, { "id": "DOID:1168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1168", "name": "hyperlipemia", "description": "" } ], "evidence": [ { "id": "1168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ] }, { "disease_id": "DOID:1287", "recommended_name": { "id": "DOID:1287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." }, "synonyms": [ { "id": "DOID:1287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1287", "name": "disease of subdivision of hemolymphoid system", "description": "" } ], "evidence": [ { "id": "1287", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ] }, { "disease_id": "DOID:1312", "recommended_name": { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "" }, "synonyms": [ { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "FGS", "description": "" }, { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "FSGS", "description": "" }, { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "focal glomerular sclerosis", "description": "" }, { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "focal glomerulosclerosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis 1", "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene." }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "ACTN4 focal segmental glomerulosclerosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "FSGS1", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis 1", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis caused by mutation in ACTN4", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis type 1", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "glomerulosclerosis, focal segmental, 1", "description": "" }, { "id": "MIM:603278", "resource": "MIM", "url": "https://www.omim.org/entry/603278", "name": "Focal segmental glomerulosclerosis 1", "description": "Focal segmental glomerulosclerosis 1" } ], "evidence": [ { "id": "1312", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ] }, { "disease_id": "DOID:13809", "recommended_name": { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "familial combined hyperlipidemia", "description": "" }, "synonyms": [ { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "familial multiple lipoprotein-type hyperlipidemia", "description": "" }, { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "mixed hyperlipidaemia", "description": "" }, { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "type IIb hyperlipoproteinemia", "description": "" }, { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "hyperbetalipoproteinemia with prebetalipoproteinemia", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "hyperlipidemia, familial combined, LPL related", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "combined hyperlipidemia, familial", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "FCHL", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "familial combined hyperlipidemia", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "hyperlipidemia, familial combined", "description": "" }, { "id": "MIM:144250", "resource": "MIM", "url": "https://www.omim.org/entry/144250", "name": "Hyperlipidemia, familial combined, 3", "description": "Hyperlipidemia, familial combined, 3" } ], "evidence": [ { "id": "13809", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ] }, { "disease_id": "DOID:14118", "recommended_name": { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "familial lipoprotein lipase deficiency", "description": "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides." }, "synonyms": [ { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "Fredrickson type I hyperlipoproteinemia", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "Fredrickson type I lipaemia", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "familial LPL deficiency", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "familial chylomicronemia syndrome", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "familial hyperlipoproteinemia type I", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "hypercholesterinaemic xanthomatosis", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "hyperchylomicronemia", "description": "" }, { "id": "DOID:14118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14118", "name": "mixed hyperglyceridemia", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "familial lipoprotein lipase deficiency", "description": "Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines." }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "Fredrickson type I hyperlipoproteinemia", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "Fredrickson type I lipaemia", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "LPL deficiency", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "familial LPL deficiency", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "familial chylomiconemia syndrome", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "familial hyperlipoproteinemia type I", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "familial lipoprotein lipase deficiency (disorder) [ambiguous]", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "familial lipoprotein lipase deficiency with type I phenotype", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "high density lipoprotein cholesterol level QTL 11", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hypercholesterinaemic xanthomatosis", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hyperchylomicronemia", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hyperlipoproteinemia type I", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "mixed hyperglyceridemia", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "Burger-Grutz syndrome", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "chylomicronemia, familial", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "endogenous hypertriglyceridaemia", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "familial fat-induced hypertriglyceridemia", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "familial hyperchylomicronemia", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hyperchylomicronemia, familial", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hyperlipemia, essential familial", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hyperlipemia, idiopathic, Burger-Grutz type", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hyperlipoproteinemia, type 1", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hyperlipoproteinemia, type 1A", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "hyperlipoproteinemia, type I", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "lipase D deficiency", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "lipd deficiency", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "lipoprotein lipase deficiency", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "lipoprotein lipase deficiency, familial", "description": "" }, { "id": "MONDO:0009387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009387", "name": "type I hyperlipoproteinemia", "description": "" }, { "id": "MIM:238600", "resource": "MIM", "url": "https://www.omim.org/entry/238600", "name": "Hyperlipoproteinemia 1", "description": "Hyperlipoproteinemia 1" } ], "evidence": [ { "id": "14118", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14118" } ] }, { "disease_id": "DOID:14221", "recommended_name": { "id": "DOID:14221", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14221", "name": "abdominal obesity-metabolic syndrome 1", "description": "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events." }, "synonyms": [ { "id": "DOID:14221", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14221", "name": "dysmetabolic syndrome X", "description": "" }, { "id": "DOID:14221", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14221", "name": "metabolic syndrome X", "description": "" }, { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "metabolic syndrome X", "description": "" }, { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "abdominal obesity-metabolic syndrome 1", "description": "" }, { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "dysmetabolic syndrome X", "description": "" }, { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "metabolic syndrome type X", "description": "" }, { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "AOMS1", "description": "" }, { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "abdominal obesity metabolic syndrome", "description": "" }, { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "abdominal obesity-metabolic syndrome quantitative trait locus 1", "description": "" }, { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "metabolic syndrome 10", "description": "" }, { "id": "MONDO:0011565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011565", "name": "metabolic syndrome, protection against", "description": "" } ], "evidence": [ { "id": "14221", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14221" } ] }, { "disease_id": "DOID:2018", "recommended_name": { "id": "DOID:2018", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2018", "name": "hyperinsulinism", "description": "" }, "synonyms": [ { "id": "DOID:2018", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2018", "name": "hyperinsulinemia", "description": "" } ], "evidence": [ { "id": "2018", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ] }, { "disease_id": "DOID:3393", "recommended_name": { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles." }, "synonyms": [ { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "CHD", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "Coronary disease", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary arteriosclerosis", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary heart disease", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "Chds4", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "Chds2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "KHDC3L complete hydatidiform mole", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "complete hydatidiform mole caused by mutation in KHDC3L", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, recurrent, type 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "HYDM2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform MOLE, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, complete", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "CX3CR1 coronary artery disease", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease caused by mutation in CX3CR1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease, resistance to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "Chds1", 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LRP6", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant type 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant, 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "ADCAD2", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "CHDS9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "Chds3", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "CHDS8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MIM:614293", "resource": "MIM", "url": "https://www.omim.org/entry/614293", "name": "Hydatidiform mole, recurrent, 2", "description": "Hydatidiform mole, recurrent, 2" }, { "id": "MIM:608320", "resource": "MIM", "url": "https://www.omim.org/entry/608320", "name": "Coronary artery disease, autosomal dominant, 1", "description": "Coronary artery disease, autosomal dominant, 1" }, { "id": "MIM:610947", "resource": "MIM", "url": "https://www.omim.org/entry/610947", "name": "Coronary artery disease, autosomal dominant, 2", "description": "Coronary artery disease, autosomal dominant, 2" } ], "evidence": [ { "id": "3393", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ] }, { "disease_id": "DOID:341", "recommended_name": { "id": "DOID:341", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain." }, "synonyms": [ { "id": "DOID:341", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:341", "name": "arterial occlusive disease", "description": "" } ], "evidence": [ { "id": "341", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:341" } ] }, { "disease_id": "DOID:3526", "recommended_name": { "id": "DOID:3526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain." }, "synonyms": [ { "id": "DOID:3526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3526", "name": "CVA - Cerebral infarction", "description": "" }, { "id": "DOID:3526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3526", "name": "Cerebral infarct", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "obsolete susceptibility to ischemic stroke", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "cerebral infarction, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "ischemic stroke, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "stroke, ischemic, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "stroke, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "cerebral infarction", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "cerebrovascular accident", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "stroke, ischemic", "description": "" }, { "id": "MIM:601367", "resource": "MIM", "url": "https://www.omim.org/entry/601367", "name": "Ischemic stroke", "description": "Ischemic stroke" } ], "evidence": [ { "id": "3526", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ] }, { "disease_id": "DOID:557", "recommended_name": { "id": "DOID:557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney." }, "synonyms": [ { "id": "DOID:557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:557", "name": "impaired renal function disease", "description": "" }, { "id": "DOID:557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:557", "name": "nephropathy", "description": "" } ], "evidence": [ { "id": "557", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:557" } ] }, { "disease_id": "DOID:5844", "recommended_name": { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia." }, "synonyms": [ { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "Myocardial infarct", "description": "" }, { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "heart attack", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", 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"resource": "MIM", "url": "https://www.omim.org/entry/601283", "name": "Type 2 diabetes mellitus 1", "description": "Type 2 diabetes mellitus 1" } ], "evidence": [ { "id": "9352", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ] }, { "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": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type 1 diabetes mellitus", "description": "A chronic condition characterized by minimal or absent production of insulin by the pancreas." }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "IDDM", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "diabetes mellitis type 1", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "diabetes mellitis type I", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "immune 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"https://www.reactome.org/PathwayBrowser/#R-DME-192456", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_648652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_648652", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q9VU78", "url": "https://www.uniprot.org/uniprot/Q9VU78", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9VU78-1", "url": "https://www.uniprot.org/uniprot/Q9VU78-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQTGVQLALFLTLTIAAVYGETGFFLNTRRVQENAQPIEAEVEALVRSSFYAADPTVVTIPRWLGNISSPEIPAVVSARLQQQDSNIISVDLSEANDETEIIDSVASLVIVLHNQFDMPLDRILVVGFAEGAHLAGGVAAKVQQDLGRQLSQITALDPSSGAELDHKLSQADAEFVEVVHTNAGGEGTWERLGHVDYYPNGGQTQPGCTTDSCSHERAFELLAEMWSPENDFVSARCGSVETLSASSCRWSTHKMGQKQEEEQPASGIYFLETRQSSPFSRGAYFISFL", "length": 289, "header": "tr|Q9VU78-1|Q9VU78_DROME Isoform 1 of Lipase domain-containing protein OS=Drosophila melanogaster OX=7227 GN=Dmel\\CG10116 PE=1 SV=1 CANONICAL=Q9VU78-1" }, "isoforms": [ { "isoform_ac": "Q9VU78-1", "url": "", "sequence": { "sequence": "MQTGVQLALFLTLTIAAVYGETGFFLNTRRVQENAQPIEAEVEALVRSSFYAADPTVVTIPRWLGNISSPEIPAVVSARLQQQDSNIISVDLSEANDETEIIDSVASLVIVLHNQFDMPLDRILVVGFAEGAHLAGGVAAKVQQDLGRQLSQITALDPSSGAELDHKLSQADAEFVEVVHTNAGGEGTWERLGHVDYYPNGGQTQPGCTTDSCSHERAFELLAEMWSPENDFVSARCGSVETLSASSCRWSTHKMGQKQEEEQPASGIYFLETRQSSPFSRGAYFISFL", "length": 289, "header": "tr|Q9VU78-1|Q9VU78_DROME Isoform 1 of Lipase domain-containing protein OS=Drosophila melanogaster OX=7227 GN=Dmel\\CG10116 PE=1 SV=1 CANONICAL=Q9VU78-1" }, "locus": { "chromosome": "3L", "start_pos": 13457238, "end_pos": 13456259, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0075824", "url": "https://www.ensembl.org/id/FBtr0075824" }, { "database": "Ensembl Peptide", "id": "FBpp0075566", "url": "https://www.ensembl.org/id/FBpp0075566" } ] } } ], "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": "Q9VU78", "url": "https://www.uniprot.org/uniprot/Q9VU78" } ], "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": "Q9VU78", "url": "https://www.uniprot.org/uniprot/Q9VU78" } ], "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": "Q9VU78", "url": "https://www.uniprot.org/uniprot/Q9VU78" } ], "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": "Q9VU78", "url": "https://www.uniprot.org/uniprot/Q9VU78" } ], "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": "Q9VU78", "url": "https://www.uniprot.org/uniprot/Q9VU78" } ], "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": "Q9VU78", "url": "https://www.uniprot.org/uniprot/Q9VU78" } ], "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": "Q9VU78", "url": "https://www.uniprot.org/uniprot/Q9VU78" } ], "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": "Q9VU78", "url": "https://www.uniprot.org/uniprot/Q9VU78" } ], "reference": [ { "type": "PubMed", "id": "17569867", "url": "https://glygen.org/publication/PubMed/17569867" } ] } ], "pathway": [ { "id": "dme:Dmel_CG10116", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG10116", "resource": "KEGG Pathway" }, { "id": "R-DME-192456", "name": "Digestion of dietary lipid", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-192456", "resource": "Reactome", "description": "Digestion of dietary lipid" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VU78", "url": "https://www.uniprot.org/uniprot/Q9VU78" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q9VU78", "url": "https://www.uniprot.org/uniprot/Q9VU78" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 66, "end_pos": 68, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": 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