{ "uniprot_canonical_ac": "Q8IS44-1", "uniprot_ac": "Q8IS44", "uniprot_id": "DRD2L_DROME", "mass": { "chemical_mass": 95057.0, "monoisotopic_mass": 95057.0 }, "refseq": { "ac": "NP_001014757", "name": "dopamine 2-like receptor, isoform F", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014757" }, "gene_names": [ { "name": "Dop2R", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8IS44", "id": "Q8IS44" }, { "name": "CG17004", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IS44", "id": "Q8IS44" }, { "name": "D2R", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IS44", "id": "Q8IS44" }, { "name": "Dop2R", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014757", "id": "NP_001014757" }, { "name": "anon-WO0170980.130; anon-WO0170980.131; anon-WO0170980.31; anon-WO0170980.32; CG17004; CG33517; CG9569; d2r; D2R; dD2R; DD2R; DmDOP3; Dmel\\CG33517", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014757", "id": "NP_001014757" } ], "protein_names": [ { "name": "Dopamine D2-like receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8IS44" }, { "name": "CG33517-PF; Dop2R-PF; D[[2]] receptor; D[[2]]-like receptor; D2-like receptor; dopamine D2 receptor; dopamine 2-like receptor; D2 autoreceptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014757", "id": "NP_001014757" }, { "name": "DD2R", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IS44" }, { "name": "dopamine 2-like receptor, isoform F", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014757", "id": "NP_001014757" } ], "function": [ { "annotation": "Receptor for dopamine. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase.", "evidence": [ { "database": "UniProtKB", "id": "Q8IS44", "url": "https://www.uniprot.org/uniprot/Q8IS44#function" }, { "database": "PubMed", "id": "12391323", "url": "https://glygen.org/publication/PubMed/12391323" } ] } ], "disease": [ { "disease_id": "DOID:0050425", "recommended_name": { "id": "DOID:0050425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050425", "name": "restless legs syndrome", "description": "A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them." }, "synonyms": [ { "id": "DOID:0050425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050425", "name": "WED", "description": "" }, { "id": "DOID:0050425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050425", "name": "Willis-Ekbom disease", "description": "" }, { "id": "DOID:0050425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050425", "name": "Wittmaack-Ekbom syndrome", "description": "" }, { "id": "MONDO:0007053", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007053", "name": "restless legs syndrome, susceptibility to, 1", "description": "" }, { "id": "MONDO:0007053", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007053", "name": "restless legs syndrome, susceptibility to, 1", "description": "" }, { "id": "MONDO:0007053", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007053", "name": "Ekbom syndrome", "description": "" }, { "id": "MONDO:0007053", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007053", "name": "RLS1", "description": "" }, { "id": "MONDO:0007053", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007053", "name": "acromelalgia, hereditary", "description": "" } ], "evidence": [ { "id": "0050425", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050425" } ] }, { "disease_id": "DOID:0080855", "recommended_name": { "id": "DOID:0080855", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture." }, "synonyms": [], "evidence": [ { "id": "0080855", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ] }, { "disease_id": "DOID:0081292", "recommended_name": { "id": "DOID:0081292", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head." }, "synonyms": [], "evidence": [ { "id": "0081292", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ] }, { "disease_id": "DOID:0111428", "recommended_name": { "id": "DOID:0111428", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111428", "name": "essential tremor 1", "description": "An essential tremor that has_material_basis_in heterozygous mutation in the DRD3 gene on chromosome 3q13.31." }, "synonyms": [ { "id": "DOID:0111428", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111428", "name": "ETM1", "description": "" }, { "id": "DOID:0111428", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111428", "name": "hereditary essential tremor 1", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "tremor, hereditary essential, 1", "description": "Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene." }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "DRD3 essential tremor", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "essential tremor caused by mutation in DRD3", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "essential tremor, hereditary, 1", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "tremor, hereditary essential, 1", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "tremor, hereditary essential, type 1", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "ETM1", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "FET1", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "tremor familial essential, 1", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "tremor hereditary essential, 1", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "tremor, familial essential, 1", "description": "" }, { "id": "MIM:190300", "resource": "MIM", "url": "https://www.omim.org/entry/190300", "name": "Tremor, hereditary essential 1", "description": "Tremor, hereditary essential 1" } ], "evidence": [ { "id": "0111428", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111428" } ] }, { "disease_id": "DOID:10024", "recommended_name": { "id": "DOID:10024", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10024", "name": "migraine with aura", "description": "A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon." }, "synonyms": [ { "id": "DOID:10024", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10024", "name": "classic migraine", "description": "" }, { "id": "MONDO:0012331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012331", "name": "migraine with aura, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012331", "name": "migraine with aura, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012331", "name": "migraine with aura, susceptibility to, type 9", "description": "" }, { "id": "MONDO:0012331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012331", "name": "Mgr9", "description": "" }, { "id": "MONDO:0012210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012210", "name": "migraine with aura, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012210", "name": "migraine with aura, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012210", "name": "migraine with aura, susceptibility to, type 7", "description": "" }, { "id": "MONDO:0012210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012210", "name": "Mgr7", "description": "" } ], "evidence": [ { "id": "10024", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10024" } ] }, { "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:10914", "recommended_name": { "id": "DOID:10914", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10914", "name": "amnestic disorder", "description": "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information." }, "synonyms": [ { "id": "DOID:10914", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10914", "name": "Amnestic syndrome", "description": "" }, { "id": "DOID:10914", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10914", "name": "Korsakoff's psychosis or syndrome", "description": "" }, { "id": "DOID:10914", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10914", "name": "amnesia", "description": "" } ], "evidence": [ { "id": "10914", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10914" } ] }, { "disease_id": "DOID:11119", "recommended_name": { "id": "DOID:11119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11119", "name": "Gilles de la Tourette syndrome", "description": "A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year." }, "synonyms": [ { "id": "DOID:11119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11119", "name": "Guinon's disease", "description": "" }, { "id": "DOID:11119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11119", "name": "Psychogenic tics", "description": "" }, { "id": "DOID:11119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11119", "name": "Tourette syndrome", "description": "" }, { "id": "DOID:11119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11119", "name": "motor-verbal tic disorder", "description": "" }, { "id": "MONDO:0007661", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007661", "name": "Tourette syndrome", "description": "A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen." }, { "id": "MONDO:0007661", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007661", "name": "Guinon's disease", "description": "" }, { "id": "MONDO:0007661", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007661", "name": "Tourette disease", "description": "" }, { "id": "MONDO:0007661", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007661", "name": "Tourette syndrome", "description": "" }, { "id": "MONDO:0007661", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007661", "name": "Tourette's syndrome", "description": "" }, { "id": "MONDO:0007661", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007661", "name": "motor-verbal tic disorder", "description": "" }, { "id": "MONDO:0007661", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007661", "name": "psychogenic tics", "description": "" }, { "id": "MONDO:0007661", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007661", "name": "GTS", "description": "" }, { "id": "MONDO:0007661", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007661", "name": "Gilles De 50A Tourette syndrome", "description": "" }, { "id": "MONDO:0007661", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007661", "name": "Gilles de la Tourette syndrome", "description": "" }, { "id": "MONDO:0007661", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007661", "name": "Tourette disorder", "description": "" }, { "id": "MONDO:0007661", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007661", "name": "chronic motor tics", "description": "" }, { "id": "MIM:137580", "resource": "MIM", "url": "https://www.omim.org/entry/137580", "name": "Gilles de la Tourette syndrome", "description": "Gilles de la Tourette syndrome" } ], "evidence": [ { "id": "11119", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11119" } ] }, { "disease_id": "DOID:11832", "recommended_name": { "id": "DOID:11832", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11832", "name": "visual epilepsy", "description": "" }, "synonyms": [ { "id": "DOID:11832", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11832", "name": "epilepsy, visual", "description": "" } ], "evidence": [ { "id": "11832", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11832" } ] }, { "disease_id": "DOID:12700", "recommended_name": { "id": "DOID:12700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12700", "name": "hyperprolactinemia", "description": "An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood." }, "synonyms": [ { "id": "DOID:12700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12700", "name": "Chiari-Frommel syndrome", "description": "" }, { "id": "DOID:12700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12700", "name": "Pregnancy-related A-G syndrome", "description": "" }, { "id": "DOID:12700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12700", "name": "hyperprolactinaemia", "description": "" } ], "evidence": [ { "id": "12700", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12700" } ] }, { "disease_id": "DOID:1307", "recommended_name": { "id": "DOID:1307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior." }, "synonyms": [], "evidence": [ { "id": "1307", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "evidence": [ { "id": "14330", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:1574", "recommended_name": { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences." }, "synonyms": [ { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "Ethanol abuse", "description": "" }, { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "alcohol abuse", "description": "" } ], "evidence": [ { "id": "1574", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ] }, { "disease_id": "DOID:1596", "recommended_name": { "id": "DOID:1596", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function." }, "synonyms": [ { "id": "DOID:1596", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1596", "name": "mental depression", "description": "" } ], "evidence": [ { "id": "1596", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ] }, { "disease_id": "DOID:1742", "recommended_name": { "id": "DOID:1742", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1742", "name": "drug psychosis", "description": "" }, "synonyms": [ { "id": "DOID:1742", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1742", "name": "Drug-induced psychosis", "description": "" }, { "id": "DOID:1742", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1742", "name": "Drug-induced psychotic disorder", "description": "" } ], "evidence": [ { "id": "1742", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1742" } ] }, { "disease_id": "DOID:2030", "recommended_name": { "id": "DOID:2030", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations." }, "synonyms": [ { "id": "DOID:2030", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2030", "name": "anxiety", "description": "" }, { "id": "DOID:2030", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2030", "name": "anxiety state", "description": "" }, { "id": "MONDO:0011918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011918", "name": "anxiety", "description": "" }, { "id": "MONDO:0011918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011918", "name": "anxiety", "description": "" }, { "id": "MONDO:0011918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011918", "name": "anxiety-related personality traits", "description": "" }, { "id": "MONDO:0011918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011918", "name": "harm avoidance", "description": "" } ], "evidence": [ { "id": "2030", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ] }, { "disease_id": "DOID:2316", "recommended_name": { "id": "DOID:2316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand." }, "synonyms": [ { "id": "DOID:2316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2316", "name": "Ischaemic encephalopathy", "description": "" }, { "id": "DOID:2316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2316", "name": "Ischemic encephalopathy", "description": "" }, { "id": "DOID:2316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2316", "name": "cerebral ischemia", "description": "" } ], "evidence": [ { "id": "2316", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ] }, { "disease_id": "DOID:2560", "recommended_name": { "id": "DOID:2560", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance." }, "synonyms": [], "evidence": [ { "id": "2560", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ] }, { "disease_id": "DOID:3602", "recommended_name": { "id": "DOID:3602", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems." }, "synonyms": [ { "id": "DOID:3602", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3602", "name": "neurotoxicity", "description": "" }, { "id": "DOID:3602", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3602", "name": "neurotoxicity syndrome", "description": "" } ], "evidence": [ { "id": "3602", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ] }, { "disease_id": "DOID:446", "recommended_name": { "id": "DOID:446", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:446", "name": "primary hyperaldosteronism", "description": "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands." }, "synonyms": [ { "id": "DOID:446", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:446", "name": "Cushing syndrome", "description": "" }, { "id": "DOID:446", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:446", "name": "Cushing's syndrome", "description": "" }, { "id": "DOID:446", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:446", "name": "hyperaldosteronism", "description": "" }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "familial hyperaldosteronism type III", "description": "Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "FH-III", "description": "" }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "FH3", "description": "" }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "familial hyperaldosteronism type 3", "description": "" }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "FH 3", "description": "" }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "FH III", "description": "" }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "HALD3", "description": "" }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "hyperaldosteronism, familial, type 3", "description": "" }, { "id": "MONDO:0013359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013359", "name": "hyperaldosteronism, familial, type III", "description": "" }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "familial hyperaldosteronism type II", "description": "Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "FH-II", "description": "" }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "FH2", "description": "" }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "familial adrenal adenoma", "description": "" }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "familial hyperaldosteronism type 2", "description": "" }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "FH 2", "description": "" }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "FHII", "description": "" }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "HALD2", "description": "" }, { "id": "MONDO:0011576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011576", "name": "hyperaldosteronism, familial, type II", "description": "" }, { "id": "MIM:613677", "resource": "MIM", "url": "https://www.omim.org/entry/613677", "name": "Hyperaldosteronism, familial, 3", "description": "Hyperaldosteronism, familial, 3" }, { "id": "MIM:605635", "resource": "MIM", "url": "https://www.omim.org/entry/605635", "name": "Hyperaldosteronism, familial, 2", "description": "Hyperaldosteronism, familial, 2" } ], "evidence": [ { "id": "446", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:446" } ] }, { "disease_id": "DOID:480", "recommended_name": { "id": "DOID:480", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:480", "name": "movement disease", "description": "A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity." }, "synonyms": [], "evidence": [ { "id": "480", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:480" } ] }, { "disease_id": "DOID:4990", "recommended_name": { "id": "DOID:4990", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4990", "name": "essential tremor", "description": "A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms." }, "synonyms": [ { "id": "DOID:4990", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4990", "name": "benign essential tremor", "description": "" }, { "id": "DOID:4990", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4990", "name": "essential hereditary tremor", "description": "" }, { "id": "DOID:4990", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4990", "name": "shaky hand syndrome", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "tremor, hereditary essential, 1", "description": "Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene." }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "DRD3 essential tremor", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "essential tremor caused by mutation in DRD3", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "essential tremor, hereditary, 1", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "tremor, hereditary essential, 1", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "tremor, hereditary essential, type 1", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "ETM1", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "FET1", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "tremor familial essential, 1", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "tremor hereditary essential, 1", "description": "" }, { "id": "MONDO:0008590", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008590", "name": "tremor, familial essential, 1", "description": "" }, { "id": "MIM:190300", "resource": "MIM", "url": "https://www.omim.org/entry/190300", "name": "Tremor, hereditary essential 1", "description": "Tremor, hereditary essential 1" } ], "evidence": [ { "id": "4990", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4990" } ] }, { "disease_id": "DOID:5419", "recommended_name": { "id": "DOID:5419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness." }, "synonyms": [ { "id": "DOID:5419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5419", "name": "schizophrenia-1", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia", "description": "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia 12", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia (disease)", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia-1", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "SCZD", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizoaffective disorder", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia with or without an affective disorder", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia, susceptibility to", "description": "" }, { "id": "MIM:181500", "resource": "MIM", "url": "https://www.omim.org/entry/181500", "name": "Schizophrenia", "description": "Schizophrenia" } ], "evidence": [ { "id": "5419", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ] }, { "disease_id": "DOID:5425", "recommended_name": { "id": "DOID:5425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5425", "name": "ovarian hyperstimulation syndrome", "description": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology." }, "synonyms": [ { "id": "DOID:5425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5425", "name": "secondary Meig's syndrome", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "ovarian hyperstimulation syndrome", "description": "A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries." }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "OHSS", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "ovarian hyperstimulation syndrome", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "secondary Meig's syndrome", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "ovarian hyperstimulation syndrome, familial gestational spontaneous", "description": "" }, { "id": "MIM:608115", "resource": "MIM", "url": "https://www.omim.org/entry/608115", "name": "Ovarian hyperstimulation syndrome", "description": "Ovarian hyperstimulation syndrome" } ], "evidence": [ { "id": "5425", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5425" } ] }, { "disease_id": "DOID:783", "recommended_name": { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease." }, "synonyms": [ { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal failure", "description": "" }, { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end-stage kidney disease", "description": "" } ], "evidence": [ { "id": "783", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:783" } ] }, { "disease_id": "DOID:9352", "recommended_name": { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin." }, "synonyms": [ { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "NIDDM", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type II diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "insulin resistance", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, type 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "Niddm4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "noninsulin-dependent diabetes mellitus 4", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "NIDDM", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2DM - type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, association with", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, late onset", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, severe, digenic", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus non-insulin dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, non-insulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, protection against", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "hypertension, insulin resistance-related, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "maturity-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus, susceptibility to", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, type 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "NIDDM1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "noninsulin-dependent diabetes mellitus 1", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "NIDDM2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "noninsulin-dependent diabetes mellitus 2", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, type 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "type 2 diabetes mellitus 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "NIDDM3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "noninsulin-dependent diabetes mellitus 3", "description": "" }, { "id": "MIM:125853", "resource": "MIM", "url": "https://www.omim.org/entry/125853", "name": "Type 2 diabetes mellitus", "description": "Type 2 diabetes mellitus" }, { "id": "MIM:601283", "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:9970", "recommended_name": { "id": "DOID:9970", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness." }, "synonyms": [ { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "inherited obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity (disease)", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "leanness, inherited, autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "monogenic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, association with, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, early-onset, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, late-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, mild, early-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, and type II diabetes, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MIM:601665", "resource": "MIM", "url": "https://www.omim.org/entry/601665", "name": "Obesity", "description": "Obesity" } ], "evidence": [ { "id": "9970", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ] }, { "disease_id": "DOID:9975", "recommended_name": { "id": "DOID:9975", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine." }, "synonyms": [], "evidence": [ { "id": "9975", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ] }, { "disease_id": "DOID:9976", "recommended_name": { "id": "DOID:9976", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance." }, "synonyms": [], "evidence": [ { "id": "9976", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IS44", "url": "https://www.uniprot.org/uniprot/Q8IS44" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "Dop2R", "url": "https://www.uniprot.org/uniprot/Q8IS44", "locus": { "chromosome": "X", "start_pos": 20004680, "end_pos": 20062706, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0053517", "url": "https://www.ensembl.org/id/FBgn0053517" } ] } } ], "crossref": [ { "id": "FBgn0053517", "url": "https://bgee.org/?page=gene&gene_id=FBgn0053517", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd15053", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd15053", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBgn0053517", "url": "https://flybase.org/reports/FBgn0053517", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "33007", "url": "https://www.ncbi.nlm.nih.gov/gene/33007", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR000276", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000276", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017452", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017452", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG33517", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG33517", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "RTTHANV", "url": "https://omabrowser.org/oma/group/RTTHANV/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2960693at2759", "url": "http://www.orthodb.org/?query=2960693at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24248", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24248", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24248:SF125", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24248:SF125", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00001", "url": "http://pfam.xfam.org/family/PF00001", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q8IS44", "url": "http://purl.obolibrary.org/obo/PR_Q8IS44", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-DME-390651", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-390651", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-418594", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001014757", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014757", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q8IS44", "url": "https://www.uniprot.org/uniprot/Q8IS44", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IS44-1", "url": "https://www.uniprot.org/uniprot/Q8IS44-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IS44-2", "url": "https://www.uniprot.org/uniprot/Q8IS44-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IS44-3", "url": "https://www.uniprot.org/uniprot/Q8IS44-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IS44-4", "url": "https://www.uniprot.org/uniprot/Q8IS44-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IS44-5", "url": "https://www.uniprot.org/uniprot/Q8IS44-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IS44-6", "url": "https://www.uniprot.org/uniprot/Q8IS44-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLSPFDWRRGISSSGTGGTMAAQPLSSTAATTAAATGATAATAATAATTSATLSTAAASTSTTAAPSAGATWINHHLAVEADSSQPANGSDAQAGVEGPTMPAGYLPLYEDVETAAEDAGYALIDDISEWLLGSVGSEAAVGGPENSTNLAVTGANGTLAWLEALNSTQPAQSNSSAEDGERGRYSLRSFVEQQLAGGGAAGAGDGGDAGIALIDSGEEAALDNVADAETDYGMLGGFGDAELLQRTATVARETLGNRTAPSTTSYDGGGSGDVGVAGGLAGTAGGGVGGAGGSGGSTFMLLLENFNDYFPNYNGSTVSGTSTIAPGVAITGSRGSGLLLEQNLTGLYLDGYRLNCTNETLNLTDSCGELRVVDHNYWALILILFPILTLFGNILVILSVCRERSLQTVTNYFIVSLAIADLLVAVVVMPFAVYFLVNGAWALPDVVCDFYIAMDVICSTSSIFNLVAISIDRYIAVTQPIKYAKHKNSRRVCLTILLVWAISAAIGSPIVLGLNNTPNREPDVCAFYNADFILYSSLSSFYIPCIIMVFLYWNIFKALRSRARKQRAARKPHLSELTGGSVIENIAQTRRLAETALDSSRHASRILPDEAATNTASGSNEEEDENAISPDIDDCHVIVNDKSTEFMLATVVEETGNSVVAQITTQPQLVVADPNGNHDSGYAASNVDDVLAGVAPASASAATSAAPRSSGSPPDSPLPSGATLQRSSVSSQRRPTGDDSPKRGEPALRSVGVDNSSVAMKPLSFVRYGVQEAMTLARNDSTLSTTSKTSSRKDKKNSQASRFTIYKVHKASKKKREKSSAKKERKATKTLAIVLGVFLFCWLPFFSCNIMDAMCAKFKKDCRPGLTAYMMTTWLGYINSFVNPVIYTIFNPEFRKAFKKIMHMG", "length": 905, "header": "sp|Q8IS44-1|DRD2L_DROME Isoform 1 of Dopamine D2-like receptor OS=Drosophila melanogaster OX=7227 GN=Dop2R PE=2 SV=2 CANONICAL=Q8IS44-1" }, "isoforms": [ { "isoform_ac": "Q8IS44-1", "url": "", "sequence": { "sequence": "MLSPFDWRRGISSSGTGGTMAAQPLSSTAATTAAATGATAATAATAATTSATLSTAAASTSTTAAPSAGATWINHHLAVEADSSQPANGSDAQAGVEGPTMPAGYLPLYEDVETAAEDAGYALIDDISEWLLGSVGSEAAVGGPENSTNLAVTGANGTLAWLEALNSTQPAQSNSSAEDGERGRYSLRSFVEQQLAGGGAAGAGDGGDAGIALIDSGEEAALDNVADAETDYGMLGGFGDAELLQRTATVARETLGNRTAPSTTSYDGGGSGDVGVAGGLAGTAGGGVGGAGGSGGSTFMLLLENFNDYFPNYNGSTVSGTSTIAPGVAITGSRGSGLLLEQNLTGLYLDGYRLNCTNETLNLTDSCGELRVVDHNYWALILILFPILTLFGNILVILSVCRERSLQTVTNYFIVSLAIADLLVAVVVMPFAVYFLVNGAWALPDVVCDFYIAMDVICSTSSIFNLVAISIDRYIAVTQPIKYAKHKNSRRVCLTILLVWAISAAIGSPIVLGLNNTPNREPDVCAFYNADFILYSSLSSFYIPCIIMVFLYWNIFKALRSRARKQRAARKPHLSELTGGSVIENIAQTRRLAETALDSSRHASRILPDEAATNTASGSNEEEDENAISPDIDDCHVIVNDKSTEFMLATVVEETGNSVVAQITTQPQLVVADPNGNHDSGYAASNVDDVLAGVAPASASAATSAAPRSSGSPPDSPLPSGATLQRSSVSSQRRPTGDDSPKRGEPALRSVGVDNSSVAMKPLSFVRYGVQEAMTLARNDSTLSTTSKTSSRKDKKNSQASRFTIYKVHKASKKKREKSSAKKERKATKTLAIVLGVFLFCWLPFFSCNIMDAMCAKFKKDCRPGLTAYMMTTWLGYINSFVNPVIYTIFNPEFRKAFKKIMHMG", "length": 905, "header": "sp|Q8IS44-1|DRD2L_DROME Isoform 1 of Dopamine D2-like receptor OS=Drosophila melanogaster OX=7227 GN=Dop2R PE=2 SV=2 CANONICAL=Q8IS44-1" }, "locus": { "chromosome": "X", "start_pos": 20028867, "end_pos": 20007022, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0343169", "url": "https://www.ensembl.org/id/FBtr0343169" }, { "database": "Ensembl Peptide", "id": "FBpp0309863", "url": "https://www.ensembl.org/id/FBpp0309863" } ] } }, { "isoform_ac": "Q8IS44-2", "url": "", "sequence": { "sequence": "MLSPFDWRRGISSSGTGGTMAAQPLSSTAATTAAATGATAATAATAATTSATLSTAAASTSTTAAPSAGATWINHHLAVEADSSQPANGSDAQAGVEGPTMPAGYLPLYEDVETAAEDAGYALIDDISEWLLGSVGSEAAVGGPENSTNLAVTGANGTLAWLEALNSTQPAQSNSSAEDGERGRYSLRSFVEQQLAGGGAAGAGDGGDAGIALIDSGEEAALDNVADAETDYGMLGGFGDAELLQRTATVARETLGNRTAPSTTSYDGGGSGDVGVAGGLAGTAGGGVGGAGGSGGSTFMLLLENFNDYFPNYNGSTVSGTSTIAPGVAITGSRGSGLLLEQNLTGLYLDGYRLNCTNETLNLTDSCGELRVVDHNYWALILILFPILTLFGNILVILSVCRERSLQTVTNYFIVSLAIADLLVAVVVMPFAVYFLVNGAWALPDVVCDFYIAMDVICSTSSIFNLVAISIDRYIAVTQPIKYAKHKNSRRVCLTILLVWAISAAIGSPIVLGLNNTPNREPDVCAFYNADFILYSSLSSFYIPCIIMVFLYWNIFKALRSRARKQRAARKPHLSELTGGSVIENIAQTRRLAETALDSSRHASRILPDEAATNTASGSNEEEDENAISPDIDDCHVIVNDKSTEFMLATVVEETGNVAMKPLSFVRYGVQEAMTLARNDSTLSTTSKTSSRKDKKNSQASRFTIYKVHKASKKKREKSSAKKERKATKTLAIVLGVFLFCWLPFFSCNIMDAMCAKFKKDCRPGLTAYMMTTWLGYINSFVNPVIYTIFNPEFRKAFKKIMHMG", "length": 805, "header": "sp|Q8IS44-2|DRD2L_DROME Isoform 2 of Dopamine D2-like receptor OS=Drosophila melanogaster OX=7227 GN=Dop2R PE=2 SV=2 CANONICAL=Q8IS44-1" }, "locus": { "chromosome": "X", "start_pos": 20028867, "end_pos": 20007022, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0343171", "url": "https://www.ensembl.org/id/FBtr0343171" }, { "database": "Ensembl Peptide", "id": "FBpp0309865", "url": "https://www.ensembl.org/id/FBpp0309865" } ] } }, { "isoform_ac": "Q8IS44-3", "url": "", "sequence": { "sequence": "MLSPFDWRRGISSSGTGGTMAAQPLSSTAATTAAATGATAATAATAATTSATLSTAAASTSTTAAPSAGATWINHHLAVEADSSQPANGSDAQAGVEGPTMPAGYLPLYEDVETAAEDAGYALIDDISEWLLGSVGSEAAVGGPENSTNLAVTGANGTLAWLEALNSTQPAQSNSSAEDGERGRYSLRSFVEQQLAGGGAAGAGDGGDAGIALIDSGEEAALDNVADAETDYGMLGGFGDAELLQRTATVARETLGNRTAPSTTSYDGGGSGDVGVAGGLAGTAGGGVGGAGGSGGSTFMLLLENFNDYFPNYNGSTVSGTSTIAPGVAITGSRGSGLLLEQNLTGLYLDGYRLNCTNETLNLTDSCGELRVVDHNYWALILILFPILTLFGNILVILSVCRERSLQTVTNYFIVSLAIADLLVAVVVMPFAVYFLVNGAWALPDVVCDFYIAMDVICSTSSIFNLVAISIDRYIAVTQPIKYAKHKNSRRVCLTILLVWAISAAIGSPIVLGLNNTPNREPDVCAFYNADFILYSSLSSFYIPCIIMVFLYWNIFKALRSRARKQRAARKPHLSELTGGSVIENIAQTRRLAETALDSSRHASRILPDEAATNTASGSNEEEDENAISPDIDDCHVIVNDKSTEFMLATVVEETGKFTIYKVHKASKKKREKSSAKKERKATKTLAIVLGVFLFCWLPFFSCNIMDAMCAKFKKDCRPGLTAYMMTTWLGYINSFVNPVIYTIFNPEFRKAFKKIMHMG", "length": 760, "header": "sp|Q8IS44-3|DRD2L_DROME Isoform 3 of Dopamine D2-like receptor OS=Drosophila melanogaster OX=7227 GN=Dop2R PE=2 SV=2 CANONICAL=Q8IS44-1" }, "locus": { "chromosome": "X", "start_pos": 20028867, "end_pos": 20007022, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0343167", "url": "https://www.ensembl.org/id/FBtr0343167" }, { "database": "Ensembl Peptide", "id": "FBpp0309861", "url": "https://www.ensembl.org/id/FBpp0309861" } ] } }, { "isoform_ac": "Q8IS44-4", "url": "", "sequence": { "sequence": "MSAPKVNGAWALPDVVCDFYIAMDVICSTSSIFNLVAISIDRYIAVTQPIKYAKHKNSRRVCLTILLVWAISAAIGSPIVLGLNNTPNREPDVCAFYNADFILYSSLSSFYIPCIIMVFLYWNIFKALRSRARKQRAARKPHLSELTGGSVIENIAQTRRLAETALDSSRHASRILPDEAATNTASGSNEEEDENAISPDIDDCHVIVNDKSTEFMLATVVEETGNSVVAQITTQPQLVVADPNGNHDSGYAASNVDDVLAGVAPASASAATSAAPRSSGSPPDSPLPSGATLQRSSVSSQRRPTGDDSPKRGEPALSVAMKPLSFVRYGVQEAMTLARNDSTLSTTSKTSSRKDKKNSQASRFTIYKVHKASKKKREKSSAKKERKATKTLAIVLGVFLFCWLPFFSCNIMDAMCAKFKKDCRPGLTAYMMTTWLGYINSFVNPVIYTIFNPEFRKAFKKIMHMG", "length": 466, "header": "sp|Q8IS44-4|DRD2L_DROME Isoform 4 of Dopamine D2-like receptor OS=Drosophila melanogaster OX=7227 GN=Dop2R PE=2 SV=2 CANONICAL=Q8IS44-1" }, "locus": { "chromosome": "X", "start_pos": 20013116, "end_pos": 20007022, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0070034", "url": "https://www.ensembl.org/id/FBtr0070034" }, { "database": "Ensembl Peptide", "id": "FBpp0099563", "url": "https://www.ensembl.org/id/FBpp0099563" } ] } }, { "isoform_ac": "Q8IS44-5", "url": "", "sequence": { "sequence": "MLSPFDWRRGISSSGTGGTMAAQPLSSTAATTAAATGATAATAATAATTSATLSTAAASTSTTAAPSAGATWINHHLAVEADSSQPANGSDAQAGVEGPTMPAGYLPLYEDVETAAEDAGYALIDDISEWLLGSVGSEAAVGGPENSTNLAVTGANGTLAWLEALNSTQPAQSNSSAEDGERGRYSLRSFVEQQLAGGGAAGAGDGGDAGIALIDSGEEAALDNVADAETDYGMLGGFGDAELLQRTATVARETLGNRTAPSTTSYDGGGSGDVGVAGGLAGTAGGGVGGAGGSGGSTFMLLLENFNDYFPNYNGSTVSGTSTIAPGVAITGSRGSGLLLEQNLTGLYLDGYRLNCTNETLNLTDSCGELRVVDHNYWALILILFPILTLFGNILVILSVCRERSLQTVTNYFIVSLAIADLLVAVVVMPFAVYFLVNGAWALPDVVCDFYIAMDVICSTSSIFNLVAISIDRYIAVTQPIKYAKHKNSRRVCLTILLVWAISAAIGSPIVLGLNNTPNREPDVCAFYNADFILYSSLSSFYIPCIIMVFLYWNIFKALRSRARKQRAARKPHLSELTGGSVIENIAQTRRLAETALDSSRHASRILPDEAATNTASGSNEEEDENAISPDIDDCHVIVNDKSTEFMLATVVEETGNSVVAQITTQPQLVVADPNGNHDSGYAASNVDDVLAGVAPASASAATSAAPRSSGSPPDSPLPSGATLQRSSVSSQRRPTGDDSPKRGEPALSVAMKPLSFVRYGVQEAMTLARNDSTLSTTSKTSSRKDKKNSQASRFTIYKVHKASKKKREKSSAKKERKATKTLAIVLGVFLFCWLPFFSCNIMDAMCAKFKKDCRPGLTAYMMTTWLGYINSFVNPVIYTIFNPEFRKAFKKIMHMG", "length": 897, "header": "sp|Q8IS44-5|DRD2L_DROME Isoform 5 of Dopamine D2-like receptor OS=Drosophila melanogaster OX=7227 GN=Dop2R PE=2 SV=2 CANONICAL=Q8IS44-1" }, "locus": { "chromosome": "X", "start_pos": 20028867, "end_pos": 20007022, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0343168", "url": "https://www.ensembl.org/id/FBtr0343168" }, { "database": "Ensembl Peptide", "id": "FBpp0309862", "url": "https://www.ensembl.org/id/FBpp0309862" } ] } }, { "isoform_ac": "Q8IS44-6", "url": "", "sequence": { "sequence": "MLSPFDWRRGISSSGTGGTMAAQPLSSTAATTAAATGATAATAATAATTSATLSTAAASTSTTAAPSAGATWINHHLAVEADSSQPANGSDAQAGVEGPTMPAGYLPLYEDVETAAEDAGYALIDDISEWLLGSVGSEAAVGGPENSTNLAVTGANGTLAWLEALNSTQPAQSNSSAEDGERGRYSLRSFVEQQLAGGGAAGAGDGGDAGIALIDSGEEAALDNVADAETDYGMLGGFGDAELLQRTATVARETLGNRTAPSTTSYDGGGSGDVGVAGGLAGTAGGGVGGAGGSGGSTFMLLLENFNDYFPNYNGSTVSGTSTIAPGVAITGSRGSGLLLEQNLTGLYLDGYRLNCTNETLNLTDSCGELRVVDHNYWALILILFPILTLFGNILVILSVCRERSLQTVTNYFIVSLAIADLLVAVVVMPFAVYFLVNGAWALPDVVCDFYIAMDVICSTSSIFNLVAISIDRYIAVTQPIKYAKHKNSRRVCLTILLVWAISAAIGSPIVLGLNNTPNREPDVCAFYNADFILYSSLSSFYIPCIIMVFLYWNIFKALRSRARKQRAARKPHLSELTGGSVIENIAQTRRLAETALDSSRHASRILPDEAATNTASGSNEEEDENAISPDIDDCHVIVNDKSTEFMLATVVEETGNVVAQITTQPQLVVADPNGNHDSGYAASNVDDVLAGVAPASASAATSAAPRSSGSPPDSPLPSGATLQRSSVSSQRRPTGDDSPKRGEPALRSVGVDNSSVAMKPLSFVRYGVQEAMTLARNDSTLSTTSKTSSRKDKKNSQASRFTIYKVHKASKKKREKSSAKKERKATKTLAIVLGVFLFCWLPFFSCNIMDAMCAKFKKDCRPGLTAYMMTTWLGYINSFVNPVIYTIFNPEFRKAFKKIMHMG", "length": 904, "header": "sp|Q8IS44-6|DRD2L_DROME Isoform 6 of Dopamine D2-like receptor OS=Drosophila melanogaster OX=7227 GN=Dop2R PE=2 SV=2 CANONICAL=Q8IS44-1" }, "locus": { "chromosome": "X", "start_pos": 20028867, "end_pos": 20007022, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0343170", "url": "https://www.ensembl.org/id/FBtr0343170" }, { "database": "Ensembl Peptide", "id": "FBpp0309864", "url": "https://www.ensembl.org/id/FBpp0309864" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "Q8IS44", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IS44#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 156, "start_aa": "Asn", "end_pos": 156, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn156", "evidence": [ { "id": "Q8IS44", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IS44#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 166, "start_aa": "Asn", "end_pos": 166, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn166", "evidence": [ { "id": "Q8IS44", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IS44#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 174, "start_aa": "Asn", "end_pos": 174, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn174", "evidence": [ { "id": "Q8IS44", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IS44#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 257, "start_aa": "Asn", "end_pos": 257, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn257", "evidence": [ { "id": "Q8IS44", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IS44#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 314, "start_aa": "Asn", "end_pos": 314, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn314", "evidence": [ { "id": "Q8IS44", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IS44#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 343, "start_aa": "Asn", "end_pos": 343, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn343", "evidence": [ { "id": "Q8IS44", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IS44#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 88, "start_aa": "Asn", "end_pos": 88, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn88", "evidence": [ { "id": "Q8IS44", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IS44#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported" ], "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": "Q8IS44", "url": "https://www.uniprot.org/uniprot/Q8IS44" } ], "reference": [ { "type": "PubMed", "id": "10731132", "url": "https://glygen.org/publication/PubMed/10731132" } ] }, { "title": "A Drosophila dopamine 2-like receptor: molecular characterization and identification of multiple alternatively spliced variants.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2002", "authors": "Ren Y., Hearn M.G., Beinborn M., Kopin A.S., McBride E.W., Reveillaud I.", "evidence": [ { "database": "UniProtKB", "id": "Q8IS44", "url": "https://www.uniprot.org/uniprot/Q8IS44" } ], "reference": [ { "type": "PubMed", "id": "12391323", "url": "https://glygen.org/publication/PubMed/12391323" } ] }, { "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": "Q8IS44", "url": "https://www.uniprot.org/uniprot/Q8IS44" } ], "reference": [ { "type": "PubMed", "id": "12537572", "url": "https://glygen.org/publication/PubMed/12537572" } ] } ], "pathway": [ { "id": "dme:Dmel_CG33517", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG33517", "resource": "KEGG Pathway" }, { "id": "R-DME-390651", "name": "Dopamine receptors", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-390651", "resource": "Reactome", "description": "Dopamine receptors" }, { "id": "R-DME-418594", "name": "G alpha (i) signalling events", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-418594", "resource": "Reactome", "description": "G alpha (i) signalling events" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "dopamine neurotransmitter receptor activity, coupled via Gi/Go", "id": "GO:0001591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001591", "evidence": [ { "database": "UniProtKB", "id": "Q8IS44", "url": "https://www.uniprot.org/uniprot/Q8IS44" } ], "pmid": "" }, { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q8IS44", "url": "https://www.uniprot.org/uniprot/Q8IS44" } ], "pmid": "" }, { "name": "G protein-coupled amine receptor activity", "id": "GO:0008227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008227", "evidence": [ { "database": "UniProtKB", "id": "Q8IS44", "url": "https://www.uniprot.org/uniprot/Q8IS44" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8IS44", "url": "https://www.uniprot.org/uniprot/Q8IS44" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8IS44", "url": 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