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genetic_association/train.jsonl

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-{"question": "Gene KRT81 has a genetic association with diseases such as", "references": ["monilethrix", "Moniliform hair syndrome", "Nodose hair", "MNLIX", "MONILETHRIX", "MONILETHRIX; MNLIX", "Beaded hair"]}
-{"question": "Gene SCNN1B has a genetic association with diseases such as", "references": ["Liddle syndrome", "Pseudoaldosteronism", "Liddle's syndrome", "LIDDLE SYNDROME; LIDLS", "Pseudohyperaldosteronism type 1", "LIDDLE SYNDROME", "LIDLS"]}
-{"question": "Gene SEC23A has a genetic association with diseases such as", "references": ["Cranio\u2013lenticulo\u2013sutural dysplasia", "Boyadjiev-Jabs syndrome", "CRANIOLENTICULOSUTURAL DYSPLASIA", "CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD", "CLSD", "craniolenticulosutural dysplasia", "Boyadjiev-Jabs Syndrome", "cranio-lenticulo-sutural dysplasia, CLSD"]}
-{"question": "Gene MSH6 has a genetic association with diseases such as", "references": ["Mismatch repair cancer syndrome", "Turcot syndrome", "Childhood Cancer Syndrome", "MMRCS", "CMMR-D", "Btp1 Syndrome", "CMMR-D syndrome", "Mismatch Repair Deficiency", "MISMATCH REPAIR CANCER SYNDROME; MMRCS", "Mmr Deficiency", "Brain Tumor-Polyposis Syndrome 1", "MISMATCH REPAIR CANCER SYNDROME", "Constitutional Mis-Match Repair Deficiency Syndrome", "Constitutional Mismatch Repair Deficiency Syndrome", "colorectal cancer", "colon cancer", "rectal cancer", "large intestine cancer", "Colorectal cancer, familial", "bowel cancer", "colon and rectal cancer", "Lynch syndrome", "COCA 1", "HNPCC - hereditary nonpolyposis colon cancer", "Hereditary Defective Mismatch Repair syndrome", "hereditary non-polyposis colon cancer type 1", "hereditary nonpolyposis colorectal cancer", "hereditary nonpolyposis colorectal neoplasm", "hereditary nonpolyposis colon cancer", "HNPCC", "Hereditary Nonpolyposis Colorectal Cancer", "Familial nonpolyposis colon cancer", "Familial nonpolyposis colorectal cancer", "colorectal neoplasm, hereditary nonpolyposis", "Colorectal Neoplasms, Hereditary Nonpolyposis"]}
-{"question": "Gene GRAMD1B has a genetic association with diseases such as", "references": ["chronic lymphocytic leukemia", "B-cell chronic lymphocytic leukemia", "CLL", "chronic lymphatic leukemia", "lymphoplasmacytic leukemia", "B-cell chronic lymphoid leukemia", "B-Cell Chronic Lymphogenous Leukemia", "Chronic Lymphocytic Leukemia (CLL)", "Hematopoeitic - Chronic Lymphocytic Leukemia (CLL)", "Chronic B-Cell Lymphocytic Leukemia", "B-Cell CLL", "Leukemia, Chronic Lymphatic", "B Cell CLL", "Small lymphocytic lymphoma", "BCLL", "LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL", "B Cell Chronic Lymphocytic Leukemia", "B-CLL", "Chronic Lymphocytic Leukemia", "B Cell Lymphocytic Leukemia", "Chronic Lymphogenous Leukemia", "B-Cell Lymphocytic Leukemia", "LEUKEMIA, CHRONIC LYMPHOCYTIC", "Chronic lymphocytic leukemia, NOS", "Chronic lymphocytic leukemia; CLL", "Leukemia, Lymphocytic, Chronic, B-Cell", "Chronic lymphocytic leukaemia", "chronic lymphocytic leukaemia"]}
-{"question": "Gene rs1801133 has a genetic association with diseases such as", "references": ["cardiovascular disease", "CV disease", "cardiovascular system disease", "myocardiovascular system disease", "heart, respiratory, and blood vessel disease", "diseases of the circulatory system", "cardiovascular diseases", "disease of subdivision of hemolymphoid system", "CVD", "miscarriage", "spontaneous abortion", "Spontaneous abortion, miscarriage", "Abortion, Spontaneous", "obsolete spontaneous abortion", "hyperhomocysteinemia", "hyperhomocysteinaemia", "Hyperhomocysteinaemia", "Homocysteinemia", "Hyperhomocysteinemia", "HOMOCYSTEINEMIA"]}
-{"question": "Gene SLCO1B1 has a genetic association with diseases such as", "references": ["Rotor syndrome", "HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR", "HBLRR", "Rotor-type hyperbilirubinemia", "Rotor Syndrome", "Hyperbilirubinemia, Rotor type"]}
-{"question": "Gene Marfan syndrome has a genetic association with diseases such as", "references": ["FBN1", "ACMICD", "ECTOL1", "FBN", "GPHYSD2", "MASS", "MFS1", "OCTD", "SGS", "SSKS", "WMS", "WMS2", "MFLS", "fibrillin 1"]}
-{"question": "Gene SORBS1 has a genetic association with diseases such as", "references": ["obesity", "corpulence", "overfatness", "fatness", "obese"]}
-{"question": "Gene Lateral meningocele syndrome has a genetic association with diseases such as", "references": ["NOTCH3", "CADASIL", "CASIL", "IMF2", "LMNS", "CADASIL1", "notch 3", "notch receptor 3"]}
-{"question": "Gene PCSK6 has a genetic association with diseases such as", "references": ["dyslexia", "reading/writing disorder"]}
-{"question": "Gene DPP9 has a genetic association with diseases such as", "references": ["interstitial lung disease", "ILD", "interstitial pneumonitis", "Lung Diseases, Interstitial"]}
-{"question": "Gene DOCK8 has a genetic association with diseases such as", "references": ["obesity", "corpulence", "overfatness", "fatness", "obese"]}
-{"question": "Gene C15orf32 has a genetic association with diseases such as", "references": ["alcohol abuse", "ethanol abuse", "harmful use of alcohol", "alcohol use disorder"]}
-{"question": "Gene MS4A3 has a genetic association with diseases such as", "references": ["Alzheimer's disease", "Alzheimer", "Alzheimers", "AD", "Alzheimer disease", "Alzheimer's dementia", "Alzheimers dementia", "Alzheimer disease, familial", "Alzheimer dementia", "Alzheimer's Disease", "Alzheimers disease"]}
-{"question": "Gene CHST11 has a genetic association with diseases such as", "references": ["cannabis dependence", "cannabis abuse", "marijuana abuse weed abuse"]}
-{"question": "Gene Weill-Marchesani syndrome has a genetic association with diseases such as", "references": ["ADAMTS10", "ADAM-TS10", "ADAMTS-10", "WMS", "WMS1", "ADAM metallopeptidase with thrombospondin type 1 motif 10", "LTBP2", "C14orf141", "GLC3D", "LTBP3", "MSPKA", "MSTP031", "WMS3", "latent transforming growth factor beta binding protein 2", "FBN1", "ACMICD", "ECTOL1", "FBN", "GPHYSD2", "MASS", "MFS1", "OCTD", "SGS", "SSKS", "WMS", "WMS2", "MFLS", "fibrillin 1"]}
-{"question": "Gene PDGFRA has a genetic association with diseases such as", "references": ["astigmatism", "gastrointestinal stromal tumor", "GANT", "GIST", "Stromal tumor of gastrointestinal tract", "Gastrointestinal stromal sarcoma", "GASTROINTESTINAL STROMAL TUMOR", "Gastrointestinal Stromal Tumor (GIST)", "GASTROINTESTINAL STROMAL TUMOR; GIST", "Gastrointestinal Stromal Neoplasm"]}
-{"question": "Gene CACNA2D1 has a genetic association with diseases such as", "references": ["obesity", "corpulence", "overfatness", "fatness", "obese", "ulcerative colitis", "hemorrhagic colitis", "Ulcerative Colitis", "Colitis Ulcerative", "Ulcerative colitis", "left-sided ulcerative colitis", "UC", "fatty liver disease", "hepatic lipidosis", "fatty degeneration of the liver", "steatosis of the liver", "Fatty liver disease", "fatty change of liver", "steatosis of liver (disorder)", "steatosis of liver", "liver steatosis", "hepatic steatosis", "fatty liver"]}
-{"question": "Gene DAB2IP has a genetic association with diseases such as", "references": ["abdominal aortic aneurysm", "AAA", "triple-a", "AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1"]}
-{"question": "Gene pancreatitis has a genetic association with diseases such as", "references": ["SPINK1", "PCTT", "PSTI", "Spink3", "TATI", "TCP", "serine peptidase inhibitor, Kazal type 1", "serine peptidase inhibitor Kazal type 1", "PRSS1", "TRP1", "TRY1", "TRY4", "TRYP1", "Trypsin 1", "protease, serine 1", "serine protease 1"]}
-{"question": "Gene MERTK has a genetic association with diseases such as", "references": ["hepatitis C", "hep C", "NANBH", "Viral hepatitis C", "chronic hepatitis C", "hepatitis C infection", "hepatitis nonA nonB", "Non-A, Non-B Hepatitis", "hepatitis type C", "HCV", "multiple sclerosis", "MS", "encephalomyelitis disseminata", "insular sclerosis", "disseminated sclerosis", "generalized multiple sclerosis", "Generalized multiple sclerosis (disorder)", "generalised multiple sclerosis", "Multiple sclerosis; MS", "Multiple sclerosis"]}
-{"question": "Gene hydrocephalus has a genetic association with diseases such as", "references": ["MPDZ", "HYC2", "MUPP1", "multiple PDZ domain crumbs cell polarity complex component", "CCDC88C", "DAPLE", "HKRP2", "KIAA1509", "SCA40", "coiled-coil domain containing 88C", "HYC1"]}
-{"question": "Gene carnitine palmitoyltransferase I deficiency has a genetic association with diseases such as", "references": ["CPT1A", "carnitine palmitoyltransferase 1A (liver)", "CPT1", "CPT1-L", "L-CPT1", "carnitine palmitoyltransferase 1A"]}
-{"question": "Gene LBR has a genetic association with diseases such as", "references": ["Pelger-Huet anomaly", "PELGER-HUET ANOMALY; PHA", "PHA", "PELGER-HUET ANOMALY", "Hydrops-ectopic calcification-moth-eaten skeletal dysplasia", "GREENBERG DYSPLASIA", "Greenberg skeletal dysplasia", "HEM dysplasia", "GRBGD", "Hydrops-ectopic calcification-motheaten syndrome", "HEM/Greenberg dysplasia", "GREENBERG DYSPLASIA; GRBGD", "Moth-Eaten Skeletal Dysplasia", "Chondrodystrophy, Hydropic and Prenatally Lethal Type", "Hem Skeletal Dysplasia", "Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia", "Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia", "HEM", "Autosomal recessive lethal chondrodystrophy with congenital hydrops", "Skeletal dysplasia, Greenberg type", "Greenberg dysplasia"]}
-{"question": "Gene alpha thalassemia has a genetic association with diseases such as", "references": ["HBA1", "HBA-T3", "HBH", "hemoglobin subunit alpha 1", "METHBA", "ECYT7"]}
-{"question": "Gene Vohwinkel syndrome has a genetic association with diseases such as", "references": ["GJB2", "CX26", "DFNA3", "DFNA3A", "DFNB1", "DFNB1A", "HID", "KID", "NSRD1", "PPK", "gap junction protein beta 2", "BAPS"]}
-{"question": "Gene FAM13A has a genetic association with diseases such as", "references": ["chronic obstructive pulmonary disease", "COPD", "chronic obstructive airway disease", "chronic obstructive airways disease NOS", "chronic obstructive lung disease", "chronic obstructive airways disease NOS disorder", "chronic obstructive lung disease disorder", "COLD", "COLD (chronic obstructive lung disease)", "Chronic Obstructive Pulmonary Disease, (COPD)", "Pulmonary Disease (COPD), Chronic Obstructive", "Obstructive Pulmonary Disease (COPD), Chronic", "Chronic Obstructive Airways Disease", "Disease (COPD), Chronic Obstructive", "Chronic Obstructive Pulmonary Disease (COPD)", "obstructive lung disease, chronic", "COPD, Chronic Obstructive Pulmonary Disease", "Pulmonary Disease, Chronic Obstructive", "interstitial lung disease", "ILD", "interstitial pneumonitis", "Lung Diseases, Interstitial"]}
-{"question": "Gene PIWIL4 has a genetic association with diseases such as", "references": ["attention deficit hyperactivity disorder", "ADHD", "hyperkinetic disorder", "attention deficit disorder", "AD/HD", "A.D.H.D", "attention deficit/hyperactivity disorder", "attention deficit hyperactivity syndrome", "Attention Deficit Disorder with Hyperactivity", "ADDH"]}
-{"question": "Gene UNC5C has a genetic association with diseases such as", "references": ["obesity", "corpulence", "overfatness", "fatness", "obese"]}
-{"question": "Gene 5-alpha-reductase deficiency has a genetic association with diseases such as", "references": ["SRD5A2", "entrez:6716", "steroid 5 alpha-reductase 2"]}
-{"question": "Gene CDH2 has a genetic association with diseases such as", "references": ["obesity", "corpulence", "overfatness", "fatness", "obese"]}
-{"question": "Gene KRT1 has a genetic association with diseases such as", "references": ["epidermolytic hyperkeratosis", "Bullous ichthyosiform erythroderma (disorder)", "Epidermolytic palmoplantar hyperkeratosis", "bullous congenital ichthyosiform erythroderma", "Bullous ichthyosiform erythroderma", "Bullous ichthyosis", "EHK", "BCIE", "EPIDERMOLYTIC HYPERKERATOSIS; EHK", "Bullous Erythroderma Ichthyosiformis Congenita of Brocq", "EI", "Epidermolytic Hyperkeratosis, Late-Onset", "Epidermolytic hyperkeratosis", "Epidermolytic Ichthyosis", "Bullous congenital ichthyosiform erythroderma of Brock", "Hyperkeratosis, Epidermolytic"]}
-{"question": "Gene FLNA has a genetic association with diseases such as", "references": ["Melnick\u2013Needles syndrome", "Melnick\u2013Needles osteodysplasty", "MELNICK-NEEDLES SYNDROME; MNS", "Melnick-Needles Osteodysplasty", "Osteodysplasty of Melnick and Needles", "MELNICK-NEEDLES SYNDROME", "MNS", "Terminal osseous dysplasia with pigmentary defects", "Odpd", "Odpf Syndrome", "TOD", "TERMINAL OSSEOUS DYSPLASIA; TOD", "Osseous Dysplasia, Digital, With Facial Pigmentary Defects and Multiple Frenula", "Terminal Osseous Dysplasia and Pigmentary Defects", "TERMINAL OSSEOUS DYSPLASIA", "terminal osseous dysplasia"]}
-{"question": "Gene Cohen-Gibson syndrome has a genetic association with diseases such as", "references": ["EED", "HEED", "WAIT1", "embryonic ectoderm development", "COGIS"]}
-{"question": "Gene pityriasis rubra pilaris has a genetic association with diseases such as", "references": ["CARD14", "BIMP2", "CARMA2", "PRP", "PSORS2", "PSS1", "caspase recruitment domain family member 14"]}
-{"question": "Gene ANO6 has a genetic association with diseases such as", "references": ["ankylosing spondylitis", "Bechterew's disease", "Marie-Str\u00fcmpell disease", "Bekhterev syndrome", "Bekhterev's disease", "Marie-Strumpell disease", "Spondylarthritis ankylopoietica", "ankylosing spondylarthritis", "ankylosing spondylarthritides", "Scott syndrome", "familial prothrombin consumption inhibitor", "familial prothrombin conversion defect", "prothrombin consumption deficiency", "bleeding abnormality due to deficiency of platelet biding of factor X", "BDPLT7", "platelet-type bleeding disorder 7", "SCTS", "Bleeding Disorder, Platelet-Type, 7", "SCOTT SYNDROME", "Platelet factor X receptor deficiency", "SCOTT SYNDROME; SCTS", "Bleeding Abnormality Due to Deficiency of Platelet Binding of Factor 10", "Prothrombin Consumption Inhibitor, Familial", "Prothrombin Conversion Defect, Familial"]}
-{"question": "Gene GFRA3 has a genetic association with diseases such as", "references": ["smallpox", "ordinary smallpox", "variola", "variola vera"]}
-{"question": "Gene Neutrophil-specific granule deficiency has a genetic association with diseases such as", "references": ["CEBPE", "C/EBP-epsilon", "CRP1", "CCAAT/enhancer binding protein epsilon", "CCAAT enhancer binding protein epsilon", "c/EBP epsilon"]}
-{"question": "Gene SUPT3H has a genetic association with diseases such as", "references": ["attention deficit hyperactivity disorder", "ADHD", "hyperkinetic disorder", "attention deficit disorder", "AD/HD", "A.D.H.D", "attention deficit/hyperactivity disorder", "attention deficit hyperactivity syndrome", "Attention Deficit Disorder with Hyperactivity", "ADDH"]}
-{"question": "Gene PSEN1 has a genetic association with diseases such as", "references": ["Pick disease", "Dementia in Pick's disease (disorder)", "lobar atrophy of brain", "pick disease of brain", "Pick's disease\uff0cPiD", "Dementia in Pick's disease", "Dementia With Lobar Atrophy and Neuronal Cytoplasmic Inclusions", "Pick's disease", "Pick Disease of the Brain"]}
-{"question": "Gene GNAQ has a genetic association with diseases such as", "references": ["Sturge\u2013Weber syndrome", "encephalotrigeminal angiomatosis", "Sturge-Weber-Krabbe disease", "Sturge-Weber syndrome", "Sturge-Weber Syndrome", "Sturge-Weber-Krabbe syndrome", "SWS type II - Facial angioma alone, no CNS involvement", "SWS type III - Isolated leptomeningeal angiomas", "Sturge-Weber-Krabbe angiomatosis", "Sturge-Weber Disease", "Meningeal capillary angiomatosis", "Leptomeningeal angiomatosis", "Encephalofacial angiomatosis", "Sturge-Weber-Dimitri syndrome", "Sturge Weber syndrome", "STURGE-WEBER SYNDROME; SWS", "SWS", "Encephalotrigeminal Syndrome", "SWS type I - Facial and leptomeningeal angiomas", "Fourth phacomatosis"]}
-{"question": "Gene essential thrombocytosis has a genetic association with diseases such as", "references": ["MPL", "C-MPL", "CD110", "MPLV", "THCYT2", "TPOR", "MPL proto-oncogene, thrombopoietin receptor", "THPOR", "JAK2", "JTK10", "THCYT3", "Janus kinase 2", "MAX2"]}
-{"question": "Gene Lujan\u2013Fryns syndrome has a genetic association with diseases such as", "references": ["MED12", "ARC240", "CAGH45", "FGS1", "HOPA", "MED12S", "OHDOX", "OKS", "OPA1", "TNRC11", "TRAP230", "mediator complex subunit 12", "Kto"]}
-{"question": "Gene familial Mediterranean fever has a genetic association with diseases such as", "references": ["MEFV", "FMF", "MEF", "TRIM20", "Mediterranean fever", "MEFV, pyrin innate immunity regulator", "MEFV innate immuity regulator, pyrin", "PAAND"]}
-{"question": "Gene Floating-Harbor syndrome has a genetic association with diseases such as", "references": ["SRCAP", "DOMO1", "EAF1", "FLHS", "SWR1", "Snf2-related CREBBP activator protein", "Snf2 related CREBBP activator protein", "DEHMBA"]}
-{"question": "Gene UBE2E2 has a genetic association with diseases such as", "references": ["type 2 diabetes", "NIDDM", "non-insulin-dependent diabetes mellitus", "type II diabetes mellitus", "Diabetes mellitus type 2", "Rare insulin-independent diabetes mellitus", "Diabetes Mellitus, Type 2", "type 2 diabetes mellitus", "diabetes (type 2)"]}
-{"question": "Gene AHDC1 has a genetic association with diseases such as", "references": ["Xia-Gibbs Syndrome", "autosomal dominant mental retardation 25", "MRD25", "Mental Retardation, Autosomal Dominant 25", "Xia-Gibbs syndrome"]}
-{"question": "Gene Brody myopathy has a genetic association with diseases such as", "references": ["ATP2A1", "ATP2A", "SERCA1", "ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1"]}
-{"question": "Gene EFNA1 has a genetic association with diseases such as", "references": ["obesity", "corpulence", "overfatness", "fatness", "obese"]}
-{"question": "Gene ALDH7A1 has a genetic association with diseases such as", "references": ["osteoporosis", "bone loss", "Pyridoxine-dependent epilepsy", "EPILEPSY, PYRIDOXINE-DEPENDENT", "EPD", "EPILEPSY, PYRIDOXINE-DEPENDENT; EPD", "Aasa Dehydrogenase Deficiency", "Pyridoxine dependency", "Vitamin B6-dependent seizures", "Antiquitin deficiency", "Pyridoxine-Dependent Epilepsy", "Pyridoxine Dependency With Seizures", "pyridoxine-dependent epilepsy"]}
-{"question": "Gene Cornea plana 2 has a genetic association with diseases such as", "references": ["KERA", "CNA2", "KTN", "SLRR2B", "keratocan"]}
-{"question": "Gene ADRA1D has a genetic association with diseases such as", "references": ["gestational hypertension", "hypertension induced by pregnancy", "pregnancy associated hypertension", "pregnancy toxemia", "Pregnancy-induced hypertension", "hypertension-associated pregnancy disorder", "Hypertension Associated Disorders of Pregnancy", "Hypertension-Associated Pregnancy Disorder", "pre-eclampsia", "Pre-eclampsia, preeclampsia", "Pre-eclampsia or eclampsia superimposed on pre-existing hypertension", "pregnancy associated hypertension", "preeclampsia/eclampsia", "toxaemia of pregnancy", "hypertension induced by pregnancy", "gestational hypertension", "proteinuric hypertension of pregnancy", "pregnancy toxemia", "pre-eclamptic toxaemia", "preeclampsia", "Pre-eclampsia"]}
-{"question": "Gene ST3GAL3 has a genetic association with diseases such as", "references": ["amyotrophic lateral sclerosis", "ALS", "Lou Gehrig's disease", "motor neuron disease, bulbar", "Lou Gehrig disease", "Charcot disease", "Amyotrophic lateral sclerosis", "motor neurone disease", "Lou Gehrig's disease"]}
-{"question": "Gene DMRT1 has a genetic association with diseases such as", "references": ["obesity", "corpulence", "overfatness", "fatness", "obese", "testicular cancer", "testis cancer"]}
-{"question": "Gene hereditary mucosal leukokeratosis has a genetic association with diseases such as", "references": ["KRT4", "CK-4", "CK4", "CYK4", "K4", "WSN1", "Keratin 4", "KRT13", "CK13", "K13", "WSN2", "keratin 13"]}
-{"question": "Gene chondrocalcinosis has a genetic association with diseases such as", "references": ["ANKH", "ANK", "CCAL2", "CMDJ", "CPPDD", "HANK", "MANK", "ANKH inorganic pyrophosphate transport regulator", "SLC62A1"]}
-{"question": "Gene RSU1 has a genetic association with diseases such as", "references": ["obesity", "corpulence", "overfatness", "fatness", "obese"]}
-{"question": "Gene CCHCR1 has a genetic association with diseases such as", "references": ["rash", "exanthema", "skin rash", "eruption", "skin eruption", "prostate cancer", "malignant tumor of the prostate", "prostatic cancer", "tumor of the prostate", "malignant neoplasm of the prostate", "prostate cancer, familial", "hereditary prostate cancer", "exanthem", "exanthema", "rash"]}
-{"question": "Gene Parkinson's disease has a genetic association with diseases such as", "references": ["CCDC82", "HSPC048", "coiled-coil domain containing 82", "DGKQ", "DAGK", "DAGK4", "DAGK7", "diacylglycerol kinase theta", "BST1", "CD157", "bone marrow stromal cell antigen 1", "CNKSR3", "MAGI1", "CNKSR family member 3", "CNK3", "CNK3/IPCEF1", "SH3GL2", "CNSA2", "EEN-B1", "SH3D2A", "SH3P4", "SH3 domain containing GRB2 like 2, endophilin A1", "SLC2A13", "HMIT", "solute carrier family 2 member 13", "WNT3", "INT4", "TETAMS", "Wnt family member 3", "RIT2", "RIBA", "RIN", "ROC2", "Ras like without CAAX 2", "PRDM15", "C21orf83", "PFM15", "ZNF298", "PR domain 15", "PR/SET domain 15", "UNC13B", "MUNC13", "UNC13", "Unc13h2", "unc-13 homolog B (C. elegans)", "unc-13 homolog B", "munc13-2", "NSF", "SKD2", "N-ethylmaleimide sensitive factor", "N-ethylmaleimide sensitive factor, vesicle fusing ATPase", "SEC18", "DEE96", "SLC41A1", "MgtE", "solute carrier family 41 member 1", "NPHPL2", "HLA-DRA", "HLA-DRA1", "MLRW", "major histocompatibility complex, class II, DR alpha", "GAK", "D130045N16Rik", "DNAJ26", "DNAJC26", "cyclin G associated kinase", "ITGA8", "integrin subunit alpha 8", "DSG3", "CDHF6", "PVA", "desmoglein 3", "ABOLM", "ATF6", "ATF6A", "ACHM7", "activating transcription factor 6", "AAK1", "AP2 associated kinase 1", "DLG2", "PPP1R58", "PSD-93", "PSD93", "chapsyn-110", "discs large homolog 2", "discs large MAGUK scaffold protein 2", "SEMA5A", "SEMAF", "semF", "semaphorin 5A", "CHCHD2", "C7orf17", "MNRR1", "NS2TP", "PARK22", "coiled-coil-helix-coiled-coil-helix domain containing 2", "MIX17B", "VPS35", "MEM3", "PARK17", "VPS35 retromer complex component", "VPS35, retromer complex component"]}
-{"question": "Gene SAR1B has a genetic association with diseases such as", "references": ["chylomicron retention disease", "Anderson disease", "CMRD", "Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells", "CRD", "CHYLOMICRON RETENTION DISEASE; CMRD", "CHYLOMICRON RETENTION DISEASE", "Lipid Transport Defect of Intestine", "Hypobetalipoproteinemia With Accumulation of Apolipoprotein B-Like Protein 1N Intestinal Cells"]}
-{"question": "Gene Kufor-Rakeb syndrome has a genetic association with diseases such as", "references": ["ATP13A2", "CLN12", "HSA9947", "KRPPD", "PARK9", "ATPase 13A2", "SPG78", "ATPase cation transporting 13A2"]}
-{"question": "Gene Infantile free sialic acid storage disease has a genetic association with diseases such as", "references": ["SLC17A5", "AST", "ISSD", "NSD", "SD", "SIALIN", "SIASD", "SLD", "solute carrier family 17 member 5"]}
-{"question": "Gene juvenile polyposis syndrome has a genetic association with diseases such as", "references": ["BMPR1A", "10q23del", "ACVRLK3", "ALK3", "CD292", "SKR5", "bone morphogenetic protein receptor type 1A"]}
-{"question": "Gene Sch\u00f6pf\u2013Schulz\u2013Passarge syndrome has a genetic association with diseases such as", "references": ["WNT10A", "OODD", "SSPS", "STHAG4", "Wnt family member 10A"]}
-{"question": "Gene SFTPD has a genetic association with diseases such as", "references": ["rheumatoid arthritis", "Arthritis or polyarthritis, rheumatic", "atrophic Arthritis", "Rheumatoid arthritis with vasculitis", "Malignant rheumatoid arthritis", "Rheumatoid arthritis", "chronic obstructive pulmonary disease", "COPD", "chronic obstructive airway disease", "chronic obstructive airways disease NOS", "chronic obstructive lung disease", "chronic obstructive airways disease NOS disorder", "chronic obstructive lung disease disorder", "COLD", "COLD (chronic obstructive lung disease)", "Chronic Obstructive Pulmonary Disease, (COPD)", "Pulmonary Disease (COPD), Chronic Obstructive", "Obstructive Pulmonary Disease (COPD), Chronic", "Chronic Obstructive Airways Disease", "Disease (COPD), Chronic Obstructive", "Chronic Obstructive Pulmonary Disease (COPD)", "obstructive lung disease, chronic", "COPD, Chronic Obstructive Pulmonary Disease", "Pulmonary Disease, Chronic Obstructive"]}
-{"question": "Gene CUL9 has a genetic association with diseases such as", "references": ["obesity", "corpulence", "overfatness", "fatness", "obese"]}
-{"question": "Gene MPV17L2 has a genetic association with diseases such as", "references": ["multiple sclerosis", "MS", "encephalomyelitis disseminata", "insular sclerosis", "disseminated sclerosis", "generalized multiple sclerosis", "Generalized multiple sclerosis (disorder)", "generalised multiple sclerosis", "Multiple sclerosis; MS", "Multiple sclerosis"]}
-{"question": "Gene Hoyeraal-Hreidarsson syndrome has a genetic association with diseases such as", "references": ["PARN", "DAN", "DKCB6", "PFBMFT4", "Poly(A)-specific ribonuclease", "ACD", "PIP1", "PTOP", "TINT1", "TPP1", "adrenocortical dysplasia homolog", "ACD, shelterin complex subunit and telomerase recruitment factor", "ACD shelterin complex subunit and telomerase recruitment factor", "TINF2", "DKCA3", "TIN2", "TERF1 interacting nuclear factor 2", "TERT", "CMM9", "DKCA2", "DKCB4", "EST2", "PFBMFT1", "TCS1", "TP2", "TRT", "hEST2", "hTRT", "telomerase reverse transcriptase", "HTERT", "DKC1", "CBF5", "DKC", "DKCX", "NAP57", "NOLA4", "XAP101", "Dyskerin", "dyskerin pseudouridine synthase 1"]}
-{"question": "Gene ND4 has a genetic association with diseases such as", "references": ["Leber hereditary optic neuropathy", "LHON", "Leber optic atrophy", "Leber's optic atrophy", "Leber's optic atrophy (disorder)", "optic atrophy, Leber's", "Leber's hereditary optic neuropathy", "Laber'shereditary optic neuropathy", "Leber Hereditary Optic Neuropathy", "Optic Atrophy, Hereditary, Leber", "MELAS syndrome", "mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes", "MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES", "Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes", "Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes", "MELAS", "Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke", "MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS", "Melas Syndrome"]}
-{"question": "Gene multiple acyl-CoA dehydrogenase deficiency has a genetic association with diseases such as", "references": ["ETFB", "MADD", "FP585", "electron transfer flavoprotein beta subunit", "electron transfer flavoprotein subunit beta", "ETFA", "EMA", "GA2", "MADD", "electron transfer flavoprotein alpha subunit", "electron transfer flavoprotein subunit alpha", "ETFDH", "electron-transferring-flavoprotein dehydrogenase", "ETFQO", "MADD", "electron transfer flavoprotein dehydrogenase"]}
-{"question": "Gene Lafora disease has a genetic association with diseases such as", "references": ["NHLRC1", "EPM2A", "EPM2B", "MALIN", "bA204B7.2", "NHL repeat containing E3 ubiquitin protein ligase 1"]}
-{"question": "Gene NGLY1 has a genetic association with diseases such as", "references": ["NGLY1-deficiency", "NGLY1-CDDG", "congenital disorder of deglycosylation", "congenital disorder of glycosylation type Iv", "deficiency of N-glycanase 1", "Alacrimia-choreoathetosis-liver dysfunction syndrome", "NGLY1 deficiency", "Cdg Iv, Formerly", "Congenital Disorder of Glycosylation, Type Iv", "Congenital Disorder of Glycosylation, Type Iv, Formerly", "CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG", "Cdg Iv", "CDDG"]}
-{"question": "Gene Hajdu-Cheney syndrome has a genetic association with diseases such as", "references": ["NOTCH2", "AGS2", "HJCYS", "hN2", "Notch-2", "notch 2", "notch receptor 2"]}
-{"question": "Gene SATB2 has a genetic association with diseases such as", "references": ["ulcerative colitis", "hemorrhagic colitis", "Ulcerative Colitis", "Colitis Ulcerative", "Ulcerative colitis", "left-sided ulcerative colitis", "UC"]}
-{"question": "Gene FOLR1 has a genetic association with diseases such as", "references": ["cerebral folate receptor alpha deficiency", "neurodegenerative syndrome due to cerebral folate transport deficiency", "NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY", "Cerebral folate deficiency"]}
-{"question": "Gene 2-methylbutyryl-CoA dehydrogenase deficiency has a genetic association with diseases such as", "references": ["ACADSB", "acyl-CoA dehydrogenase, short/branched chain", "2-MEBCAD", "ACAD7", "SBCAD", "acyl-CoA dehydrogenase short/branched chain"]}
-{"question": "Gene Currarino syndrome has a genetic association with diseases such as", "references": ["MNX1", "HB9", "HLXB9", "HOXHB9", "SCRA1", "motor neuron and pancreas homeobox 1"]}
-{"question": "Gene asplenia has a genetic association with diseases such as", "references": ["NPHP3", "CFAP31", "MKS7", "NPH3", "RHPD", "RHPD1", "SLSN3", "nephronophthisis 3 (adolescent)", "nephrocystin 3"]}
-{"question": "Gene ND1 has a genetic association with diseases such as", "references": ["Leber hereditary optic neuropathy", "LHON", "Leber optic atrophy", "Leber's optic atrophy", "Leber's optic atrophy (disorder)", "optic atrophy, Leber's", "Leber's hereditary optic neuropathy", "Laber'shereditary optic neuropathy", "Leber Hereditary Optic Neuropathy", "Optic Atrophy, Hereditary, Leber", "MELAS syndrome", "mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes", "MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES", "Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes", "Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes", "MELAS", "Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke", "MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS", "Melas Syndrome"]}
-{"question": "Gene MSH2 has a genetic association with diseases such as", "references": ["Muir-Torre syndrome", "MUIR-TORRE SYNDROME; MRTES", "MRTES", "Cutaneous Sebaceous Neoplasms and Keratoacanthomas, Multiple, With Gastrointestinal and Other Carcinomas", "Multiple keratoacanthoma, Muir-Torre type", "MUIR-TORRE SYNDROME", "Mismatch repair cancer syndrome", "Turcot syndrome", "Childhood Cancer Syndrome", "MMRCS", "CMMR-D", "Btp1 Syndrome", "CMMR-D syndrome", "Mismatch Repair Deficiency", "MISMATCH REPAIR CANCER SYNDROME; MMRCS", "Mmr Deficiency", "Brain Tumor-Polyposis Syndrome 1", "MISMATCH REPAIR CANCER SYNDROME", "Constitutional Mis-Match Repair Deficiency Syndrome", "Constitutional Mismatch Repair Deficiency Syndrome", "colorectal cancer", "colon cancer", "rectal cancer", "large intestine cancer", "Colorectal cancer, familial", "bowel cancer", "colon and rectal cancer", "Lynch syndrome", "COCA 1", "HNPCC - hereditary nonpolyposis colon cancer", "Hereditary Defective Mismatch Repair syndrome", "hereditary non-polyposis colon cancer type 1", "hereditary nonpolyposis colorectal cancer", "hereditary nonpolyposis colorectal neoplasm", "hereditary nonpolyposis colon cancer", "HNPCC", "Hereditary Nonpolyposis Colorectal Cancer", "Familial nonpolyposis colon cancer", "Familial nonpolyposis colorectal cancer", "colorectal neoplasm, hereditary nonpolyposis", "Colorectal Neoplasms, Hereditary Nonpolyposis"]}
-{"question": "Gene hand-foot-genital syndrome has a genetic association with diseases such as", "references": ["HOXA13", "HOX1", "HOX1J", "homeobox A13"]}
-{"question": "Gene LHB has a genetic association with diseases such as", "references": ["hypogonadotropic hypogonadism 23 with or without anosmia", "Hypogonadism with spermatogenesis", "PASQUALINI SYNDROME", "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency", "46,XY disorder of sex development due to LHB deficiency", "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency", "leydig cell hypoplasia due to LHB deficiency", "46,XY DSD due to luteinizing hormone subunit beta deficiency", "fertile eunuch syndrome", "46,XY DSD due to LHB deficiency", "HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA", "HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23", "HH23"]}
-{"question": "Gene LAMP2 has a genetic association with diseases such as", "references": ["Danon disease", "ANTOPOL DISEASE", "PSEUDOGLYCOGENOSIS II", "Glycogenosis due to LAMP-2 deficiency", "Glycogen Storage Disease Iib", "Vacuolar cardiomyopathy and myopathy X-linked", "Lysosomal glycogen storage disease without acid maltase deficiency (formerly)", "X-linked vacuolar cardiomyopathy and myopathy", "Pseudoglycogenosis 2", "Glycogen storage cardiomyopathy", "Gsd Iib", "Gsd Iib, Formerly", "Vacuolar Cardiomyopathy and Myopathy, X-Linked", "Glycogen storage disease due to LAMP-2 deficiency", "GSD due to LAMP-2 deficiency", "Glycogen storage disease type 2b (formerly)", "Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency", "Lysosomal glycogen storage disease with normal acid maltase activity", "GSD2B (formerly)", "DANON DISEASE", "Glycogen storage disease limited to the heart", "Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly", "Glycogen Storage Disease Type IIb"]}
-{"question": "Gene IRF4 has a genetic association with diseases such as", "references": ["chronic lymphocytic leukemia", "B-cell chronic lymphocytic leukemia", "CLL", "chronic lymphatic leukemia", "lymphoplasmacytic leukemia", "B-cell chronic lymphoid leukemia", "B-Cell Chronic Lymphogenous Leukemia", "Chronic Lymphocytic Leukemia (CLL)", "Hematopoeitic - Chronic Lymphocytic Leukemia (CLL)", "Chronic B-Cell Lymphocytic Leukemia", "B-Cell CLL", "Leukemia, Chronic Lymphatic", "B Cell CLL", "Small lymphocytic lymphoma", "BCLL", "LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL", "B Cell Chronic Lymphocytic Leukemia", "B-CLL", "Chronic Lymphocytic Leukemia", "B Cell Lymphocytic Leukemia", "Chronic Lymphogenous Leukemia", "B-Cell Lymphocytic Leukemia", "LEUKEMIA, CHRONIC LYMPHOCYTIC", "Chronic lymphocytic leukemia, NOS", "Chronic lymphocytic leukemia; CLL", "Leukemia, Lymphocytic, Chronic, B-Cell", "Chronic lymphocytic leukaemia", "chronic lymphocytic leukaemia", "progressive supranuclear palsy", "Steele-Richardson-Olszewski syndrome", "progressive supranuclear ophthalmoplegia", "Progressive supranuclear palsy: PSP", "PSP syndrome", "Progressive supranuclear palsy"]}
-{"question": "Gene Joubert syndrome has a genetic association with diseases such as", "references": ["MKS1", "BBS13", "MES", "MKS", "POC12", "Meckel syndrome, type 1", "JBTS28", "MKS transition zone complex subunit 1", "CEP104", "GlyBP", "KIAA0562", "CFAP256", "JBTS25", "ROC22", "centrosomal protein 104", "CPLANE1", "JBTS17", "OFD6", "Hug", "chromosome 5 open reading frame 42", "ciliogenesis and planar polarity effector 1", "C5orf42", "TMEM67", "JBTS6", "MECKELIN", "MKS3", "NPHP11", "TNEM67", "transmembrane protein 67", "ARL13B", "ARL2L1", "JBTS8", "ADP ribosylation factor like GTPase 13B"]}
-{"question": "Gene CACNB2 has a genetic association with diseases such as", "references": ["obesity", "corpulence", "overfatness", "fatness", "obese", "arterial hypertension", "high blood pressure", "\"the silent killer\"", "hypertension"]}
-{"question": "Gene FAT4 has a genetic association with diseases such as", "references": ["bipolar disorder", "BP", "manic depression", "BPAD", "major depressive disorder", "recurrent depressive disorder", "major depression", "unipolar depression", "MDD", "clinical depression", "recurrent major depression", "single major depressive episode", "recurrent major depression in complete remission", "recurrent major depressive episodes, in full remission (disorder)", "major depression disorder", "depression"]}
-{"question": "Gene RASEF has a genetic association with diseases such as", "references": ["obesity", "corpulence", "overfatness", "fatness", "obese"]}
-{"question": "Gene uterine fibroid has a genetic association with diseases such as", "references": ["TNRC6B", "trinucleotide repeat containing 6B", "trinucleotide repeat containing adaptor 6B", "GDSBA"]}
-{"question": "Gene IFT88 has a genetic association with diseases such as", "references": ["bipolar disorder", "BP", "manic depression", "BPAD", "schizophrenia", "Morel-Kraepelin disease", "Kraepelin-Morel disease", "dementia pr\u00e6cox", "dementia praecox", "schizophrenia-1", "mental depression", "depression"]}
-{"question": "Gene ETFB has a genetic association with diseases such as", "references": ["multiple acyl-CoA dehydrogenase deficiency", "MAD deficiency", "MADD", "electron transfer flavoprotein deficiency", "electron transfer flavoprotein ubiquinone oxidoreductase deficiency", "glutaric acidemia type 2", "glutaric aciduria type 2", "Glutaric acidaemia type 2", "Glutaric Acidemia 2B", "Glutaric Aciduria 2", "Etfb Deficiency", "Glutaric Acidemia 2C", "Glutaric Acidemia 2A", "Multiple Acyl Coenzyme A Dehydrogenase Deficiency", "MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY", "MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD", "Ethylmalonic-Adipicaciduria", "Etfdh Deficiency", "Etfa Deficiency", "Glutaric Acidemia 2", "Ga 2", "Glutaric Aciduria, Type 2"]}
-{"question": "Gene Helsmoortel-Van Der Aa syndrome has a genetic association with diseases such as", "references": ["ADNP", "ADNP1", "MRD28", "HVDAS", "activity-dependent neuroprotector homeobox", "activity dependent neuroprotector homeobox"]}
-{"question": "Gene BMPR2 has a genetic association with diseases such as", "references": ["pulmonary venoocclusive disease", "pulmonary veno-occlusive disease (disorder)", "pulmonary veno-occlusive disease", "Obstructive disease of the pulmonary veins", "PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT", "PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1", "PVOD1", "Pvod", "Pulmonary veno-occlusive disease"]}
-{"question": "Gene ACADSB has a genetic association with diseases such as", "references": ["2-methylbutyryl-CoA dehydrogenase deficiency", "short/branched-chain acyl-CoA dehydrogenase deficiency", "SBCADD", "butyryl-CoA dehydrogenase deficiency", "Short branched-chain acyl-CoA dehydrogenase deficiency", "2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY", "2-methylbutyric aciduria", "SBCAD deficiency", "Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency", "2-Methylbutyryl Glycinuria"]}
-{"question": "Gene PIP4K2A has a genetic association with diseases such as", "references": ["acute lymphocytic leukemia", "ALL", "acute lymphoblastic leukemia", "acute lymphoblastic leukaemia", "obesity", "corpulence", "overfatness", "fatness", "obese"]}
-{"question": "Gene CDH1 has a genetic association with diseases such as", "references": ["colorectal cancer", "colon cancer", "rectal cancer", "large intestine cancer", "Colorectal cancer, familial", "bowel cancer", "colon and rectal cancer"]}
-{"question": "Gene VAV3 has a genetic association with diseases such as", "references": ["hypothyroidism", "Thyroid insufficiency", "underactive thyroid", "low thyroid", "hypothyreosis", "Thyroid \u0410\u043d\u0430\u0441\u0442\u0430\u0441\u0438\u044f deficiency"]}
-{"question": "Gene SAE1 has a genetic association with diseases such as", "references": ["multiple sclerosis", "MS", "encephalomyelitis disseminata", "insular sclerosis", "disseminated sclerosis", "generalized multiple sclerosis", "Generalized multiple sclerosis (disorder)", "generalised multiple sclerosis", "Multiple sclerosis; MS", "Multiple sclerosis"]}
-{"question": "Gene TNFRSF10B has a genetic association with diseases such as", "references": ["head and neck squamous cell carcinoma", "HNSCC", "carcinoma of the head and neck", "squamous cell carcinoma of the head and neck", "squamous cell carcinomas of head and neck", "Head and neck squamous cell carcinoma", "SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC", "Head and neck squamous cell carcinoma, NOS", "SCCHN", "craniocervical region squamous cell carcinoma", "SQUAMOUS CELL CARCINOMA, HEAD AND NECK", "Squamous Cell Carcinoma of Head and Neck"]}