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diff --git a/data/results/gpt_4_prompt_based_true_false_binary_response.csv b/data/results/gpt_4_prompt_based_true_false_binary_response.csv new file mode 100644 index 0000000..17f0aeb --- /dev/null +++ b/data/results/gpt_4_prompt_based_true_false_binary_response.csv @@ -0,0 +1,967 @@ +question,label,llm_answer +enhanced S-cone syndrome is not a vitreoretinal degeneration,False,"{ + ""answer"": ""False"" +}" +metronidazole treats crohn's disease,True,"{ + ""answer"": ""True"" +}" +KLEEFSTRA SYNDROME 1 is not associated with Gene EHMT1,False,"{ + ""answer"": ""False"" +}" +Juvenile polyposis syndrome associates Gene SMAD4,True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for congenital generalized lipodystrophy type 2 is DOID:10588,False,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for Marfan syndrome is DOID:0060055,False,"{ + ""answer"": ""False"" +}" +cystic fibrosis is a respiratory system disorder,True,"{ + ""answer"": ""True"" +}" +alpha-Mannosidosis associates Gene MAN2B1,True,"{ + ""answer"": ""True"" +}" +Wolcott-Rallison syndrome associates Gene EIF2AK3,True,"{ + ""answer"": ""True"" +}" +Neurofibromatosis 2 is not associated with Gene NF2,False,"{ + ""answer"": ""False"" +}" +Angelman syndrome is a syndromic disease,True,"{ + ""answer"": ""True"" +}" +colchicine treats familial mediterranean fever,True,"{ + ""answer"": ""True"" +}" +Marfan Syndrome associates Gene FBN1,True,"{ + ""answer"": ""True"" +}" +Mowat-Wilson syndrome is a syndromic intellectual disability,True,"{ + ""answer"": ""True"" +}" +mulibrey nanism is a syndromic disease,True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for pheochromocytoma is DOID:14692,False,"{ + ""answer"": ""False"" +}" +Tangier Disease is not associated with Gene ABCA1,False,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for central diabetes insipidus is DOID:350,False,"{ + ""answer"": ""False"" +}" +Ulnar-mammary syndrome is not associated with Gene TBX3,False,"{ + ""answer"": ""False"" +}" +bevacizumab treats hereditary hemorrhagic telangiectasia,True,"{ + ""answer"": ""True"" +}" +Liver carcinoma is not associated with Gene MET,False,"{ + ""answer"": ""False"" +}" +Antithrombin III Deficiency is not associated with Gene SERPINC1,False,"{ + ""answer"": ""False"" +}" +Mastocytosis is not associated with Gene KIT,False,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for Farber lipogranulomatosis is DOID:0050464,True,"{ + ""answer"": ""True"" +}" +Familial Mediterranean Fever associates Gene MEFV,True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for Wiskott-Aldrich syndrome is DOID:9169,True,"{ + ""answer"": ""True"" +}" +Tay-Sachs disease is not a eye degenerative disorder,False,"{ + ""answer"": ""True"" +}" +ibuprofen treats cystic fibrosis,True,"{ + ""answer"": ""False"" +}" +Juvenile Myoclonic Epilepsy is not associated with Gene EFHC1,False,"{ + ""answer"": ""False"" +}" +Costello syndrome (disorder) is not associated with Gene HRAS,False,"{ + ""answer"": ""False"" +}" +Very long chain acyl-CoA dehydrogenase deficiency is not associated with Gene ACADVL,False,"{ + ""answer"": ""False"" +}" +Wolman disease is a lysosomal acid lipase deficiency,True,"{ + ""answer"": ""True"" +}" +Fibrodysplasia Ossificans Progressiva associates Gene ACVR1,True,"{ + ""answer"": ""True"" +}" +Canavan Disease associates Gene ASPA,True,"{ + ""answer"": ""True"" +}" +Chediak-Higashi syndrome is a congenital nervous system disorder,True,"{ + ""answer"": ""False"" +}" +Hereditary hemorrhagic telangiectasia associates Gene ENG,True,"{ + ""answer"": ""True"" +}" +Lafora Disease is not associated with Gene NHLRC1,False,"{ + ""answer"": ""False"" +}" +Pheochromocytoma is not associated with Gene RET,False,"{ + ""answer"": ""False"" +}" +"Xeroderma pigmentosum, group B associates Gene ERCC3",True,"{ + ""answer"": ""True"" +}" +Acute intermittent porphyria is not associated with Gene HMBS,False,"{ + ""answer"": ""False"" +}" +melphalan treats melanoma,True,"{ + ""answer"": ""True"" +}" +piebaldism is a autosomal dominant disease,True,"{ + ""answer"": ""True"" +}" +vitelliform macular dystrophy is not a macular degeneration,False,"{ + ""answer"": ""False"" +}" +Spinocerebellar Ataxia Type 5 associates Gene SPTBN2,True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for Pelizaeus-Merzbacher disease is DOID:5688,False,"{ + ""answer"": ""True"" +}" +"Robinow syndrome, autosomal recessive associates Gene ROR2",True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for Loeys-Dietz syndrome is DOID:0060745,False,"{ + ""answer"": ""True"" +}" +Cystic Fibrosis associates Gene CFTR,True,"{ + ""answer"": ""True"" +}" +Greig cephalopolysyndactyly syndrome associates Gene GLI3,True,"{ + ""answer"": ""True"" +}" +alkaptonuria is not a disorder of tyrosine metabolism,False,"{ + ""answer"": ""False"" +}" +Timothy syndrome associates Gene CACNA1C,True,"{ + ""answer"": ""True"" +}" +Unverricht-Lundborg syndrome is a movement disorder,True,"{ + ""answer"": ""True"" +}" +Denys-Drash syndrome is a autosomal dominant disease,True,"{ + ""answer"": ""False"" +}" +factor ix treats hemophilia b,True,"{ + ""answer"": ""True"" +}" +adrenal cortex hormones treats crohn's disease,True,"{ + ""answer"": ""True"" +}" +Mucopolysaccharidosis VI associates Gene ARSB,True,"{ + ""answer"": ""True"" +}" +"HEMOCHROMATOSIS, TYPE 4 associates Gene SLC40A1",True,"{ + ""answer"": ""True"" +}" +"Charcot-Marie-Tooth Disease, Type Ib associates Gene MPZ",True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for Timothy syndrome is DOID:0060173,True,"{ + ""answer"": ""True"" +}" +Denys-Drash Syndrome is not associated with Gene WT1,False,"{ + ""answer"": ""False"" +}" +Cherubism associates Gene SH3BP2,True,"{ + ""answer"": ""True"" +}" +PITT-HOPKINS SYNDROME is not associated with Gene TCF4,False,"{ + ""answer"": ""False"" +}" +Greig cephalopolysyndactyly syndrome is not a syndromic disease,False,"{ + ""answer"": ""False"" +}" +Paroxysmal Nonkinesigenic Dyskinesia 1 is not associated with Gene PNKD,False,"{ + ""answer"": ""False"" +}" +Enhanced S-Cone Syndrome is not associated with Gene NR2E3,False,"{ + ""answer"": ""False"" +}" +Canavan disease is a inborn aminoacylase deficiency,True,"{ + ""answer"": ""False"" +}" +Episodic ataxia type 2 (disorder) is not associated with Gene CACNA1A,False,"{ + ""answer"": ""False"" +}" +Aniridia is not associated with Gene PAX6,False,"{ + ""answer"": ""False"" +}" +Congenital contractural arachnodactyly associates Gene FBN2,True,"{ + ""answer"": ""True"" +}" +Muenke Syndrome associates Gene FGFR3,True,"{ + ""answer"": ""True"" +}" +Carney complex is a autosomal dominant disease,True,"{ + ""answer"": ""True"" +}" +Borjeson-Forssman-Lehmann syndrome is not a X-linked syndromic intellectual disability,False,"{ + ""answer"": ""False"" +}" +Johanson-Blizzard syndrome associates Gene UBR1,True,"{ + ""answer"": ""True"" +}" +MASA SYNDROME (disorder) is not associated with Gene L1CAM,False,"{ + ""answer"": ""False"" +}" +Autosomal dominant hypophosphatemic rickets associates Gene FGF23,True,"{ + ""answer"": ""True"" +}" +Acrodermatitis enteropathica associates Gene SLC39A4,True,"{ + ""answer"": ""True"" +}" +Rothmund-Thomson syndrome is not associated with Gene RECQL4,False,"{ + ""answer"": ""False"" +}" +Cleidocranial Dysplasia associates Gene RUNX2,True,"{ + ""answer"": ""True"" +}" +LONG QT SYNDROME 3 associates Gene SCN5A,True,"{ + ""answer"": ""True"" +}" +Infantile hypophosphatasia associates Gene ALPL,True,"{ + ""answer"": ""True"" +}" +acrodermatitis enteropathica is not a inborn metal metabolism disorder,False,"{ + ""answer"": ""False"" +}" +Ataxia Telangiectasia associates Gene ATM,True,"{ + ""answer"": ""True"" +}" +alpha-galactosidase treats fabry disease,True,"{ + ""answer"": ""True"" +}" +Laron syndrome is a autosomal recessive disease,True,"{ + ""answer"": ""True"" +}" +Piebaldism associates Gene KIT,True,"{ + ""answer"": ""True"" +}" +Pfeiffer Syndrome associates Gene FGFR2,True,"{ + ""answer"": ""True"" +}" +"Bernard-Soulier syndrome is a inherited bleeding disorder, platelet-type",True,"{ + ""answer"": ""True"" +}" +Burkitt Lymphoma is not associated with Gene MYC,False,"{ + ""answer"": ""False"" +}" +Ornithine carbamoyltransferase deficiency associates Gene OTC,True,"{ + ""answer"": ""True"" +}" +Nail-Patella Syndrome associates Gene LMX1B,True,"{ + ""answer"": ""True"" +}" +Tetralogy of Fallot associates Gene ZFPM2,True,"{ + ""answer"": ""True"" +}" +Hartnup Disease is not associated with Gene SLC6A19,False,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for fibrodysplasia ossificans progressiva is DOID:13374,True,"{ + ""answer"": ""False"" +}" +familial Mediterranean fever is not a primary immunodeficiency due to a genetic defect in innate immunity,False,"{ + ""answer"": ""False"" +}" +Hemophilia B is not associated with Gene F9,False,"{ + ""answer"": ""False"" +}" +Rapp-Hodgkin syndrome is a autosomal dominant disease,True,"{ + ""answer"": ""True"" +}" +Borjeson-Forssman-Lehmann syndrome is not associated with Gene PHF6,False,"{ + ""answer"": ""False"" +}" +Multiple Endocrine Neoplasia Type 2b associates Gene RET,True,"{ + ""answer"": ""True"" +}" +Choroideremia is not associated with Gene CHM,False,"{ + ""answer"": ""False"" +}" +Wolman Disease associates Gene LIPA,True,"{ + ""answer"": ""True"" +}" +Adenine phosphoribosyltransferase deficiency associates Gene APRT,True,"{ + ""answer"": ""True"" +}" +Holt-Oram syndrome is not associated with Gene TBX5,False,"{ + ""answer"": ""False"" +}" +tetralogy of fallot is not a hereditary disease,False,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for mosaic variegated aneuploidy syndrome 1 is DOID:0080141,True,"{ + ""answer"": ""True"" +}" +hemophilia B is a hemorrhagic disease,True,"{ + ""answer"": ""True"" +}" +fatal familial insomnia is not a insomnia,False,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for mastocytosis is DOID:0060768,False,"{ + ""answer"": ""True"" +}" +osteosarcoma is a sarcoma,True,"{ + ""answer"": ""True"" +}" +immune checkpoint inhibitors treats melanoma,True,"{ + ""answer"": ""True"" +}" +Johanson-Blizzard syndrome is a congenital nervous system disorder,True,"{ + ""answer"": ""False"" +}" +Achondroplasia is not a osteochondrodysplasia,False,"{ + ""answer"": ""False"" +}" +KUFOR-RAKEB SYNDROME associates Gene ATP13A2,True,"{ + ""answer"": ""True"" +}" +Loeys-Dietz Syndrome associates Gene TGFBR1,True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for Rothmund-Thomson syndrome is DOID:2732,True,"{ + ""answer"": ""True"" +}" +Angelman Syndrome is not associated with Gene UBE3A,False,"{ + ""answer"": ""False"" +}" +biotinidase deficiency is not a multiple carboxylase deficiency,False,"{ + ""answer"": ""False"" +}" +6-mercaptopurine treats crohn's disease,True,"{ + ""answer"": ""True"" +}" +Wolcott-Rallison syndrome is a syndromic disease,True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for spinocerebellar ataxia type 5 is DOID:0050882,False,"{ + ""answer"": ""True"" +}" +Pseudopseudohypoparathyroidism associates Gene GNAS,True,"{ + ""answer"": ""True"" +}" +alveolar rhabdomyosarcoma is not a rhabdomyosarcoma,False,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for Norrie disease is DOID:0060599,False,"{ + ""answer"": ""True"" +}" +vaccines treats melanoma,True,"{ + ""answer"": ""False"" +}" +argipressin treats central diabetes insipidus,True,"{ + ""answer"": ""True"" +}" +Omenn Syndrome associates Gene RAG2,True,"{ + ""answer"": ""True"" +}" +adenine phosphoribosyltransferase deficiency is a inborn disorder of amino acid metabolism,True,"{ + ""answer"": ""False"" +}" +Progeria associates Gene LMNA,True,"{ + ""answer"": ""True"" +}" +mercaptopurine treats crohn's disease,True,"{ + ""answer"": ""True"" +}" +Peutz-Jeghers Syndrome associates Gene STK11,True,"{ + ""answer"": ""True"" +}" +penicillamine treats cystinuria,True,"{ + ""answer"": ""True"" +}" +Noonan syndrome is a multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome,True,"{ + ""answer"": ""True"" +}" +RAPP-HODGKIN SYNDROME associates Gene TP63,True,"{ + ""answer"": ""True"" +}" +Bernard-Soulier Syndrome associates Gene GP1BA,True,"{ + ""answer"": ""True"" +}" +Spinocerebellar Ataxia Type 6 (disorder) associates Gene CACNA1A,True,"{ + ""answer"": ""True"" +}" +Werner Syndrome associates Gene WRN,True,"{ + ""answer"": ""True"" +}" +sarcoma is a cancer,True,"{ + ""answer"": ""True"" +}" +brachydactyly type C is a brachydactyly,True,"{ + ""answer"": ""True"" +}" +Alveolar rhabdomyosarcoma associates Gene PAX3,True,"{ + ""answer"": ""True"" +}" +CHARGE Syndrome is not associated with Gene CHD7,False,"{ + ""answer"": ""False"" +}" +Ellis-van Creveld syndrome is not a heart disorder,False,"{ + ""answer"": ""True"" +}" +Pelizaeus-Merzbacher Disease associates Gene PLP1,True,"{ + ""answer"": ""True"" +}" +Microvillus inclusion disease is not associated with Gene MYO5B,False,"{ + ""answer"": ""False"" +}" +DiGeorge syndrome is a congenital T-cell immunodeficiency,True,"{ + ""answer"": ""True"" +}" +melanoma associates Gene BRAF,True,"{ + ""answer"": ""True"" +}" +"Basal ganglia disease, biotin-responsive associates Gene SLC19A3",True,"{ + ""answer"": ""True"" +}" +Coffin-Siris syndrome associates Gene ARID1B,True,"{ + ""answer"": ""True"" +}" +Sitosterolemia is not associated with Gene ABCG8,False,"{ + ""answer"": ""False"" +}" +Alexander Disease associates Gene GFAP,True,"{ + ""answer"": ""True"" +}" +pembrolizumab treats melanoma,True,"{ + ""answer"": ""True"" +}" +congenital contractural arachnodactyly is not a congenital nervous system disorder,False,"{ + ""answer"": ""True"" +}" +cherubism is not a autosomal dominant disease,False,"{ + ""answer"": ""False"" +}" +Norrie disease associates Gene NDP,True,"{ + ""answer"": ""True"" +}" +Hyperkalemic periodic paralysis is not associated with Gene SCN4A,False,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for ataxia telangiectasia is DOID:0060010,False,"{ + ""answer"": ""False"" +}" +"Xeroderma pigmentosum, group A associates Gene XPA",True,"{ + ""answer"": ""True"" +}" +antibiotics treats obesity,True,"{ + ""answer"": ""False"" +}" +antineoplastic agents treats osteosarcoma,True,"{ + ""answer"": ""True"" +}" +Jervell-Lange Nielsen Syndrome is not associated with Gene KCNQ1,False,"{ + ""answer"": ""False"" +}" +insulin treats obesity,True,"{ + ""answer"": ""False"" +}" +Pitt-Hopkins syndrome is a syndromic disease,True,"{ + ""answer"": ""True"" +}" +POLYCYSTIC KIDNEY DISEASE 1 associates Gene PKD1,True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for Tangier disease is DOID:1388,True,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for Smith-Lemli-Opitz syndrome is DOID:0080026,False,"{ + ""answer"": ""True"" +}" +alpha-d-galactosidase enzyme treats fabry disease,True,"{ + ""answer"": ""True"" +}" +Burkitt lymphoma is a neoplasm of mature B-cells,True,"{ + ""answer"": ""True"" +}" +Vitelliform Macular Dystrophy associates Gene BEST1,True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for Smith-Magenis syndrome is DOID:12271,False,"{ + ""answer"": ""True"" +}" +Noonan Syndrome associates Gene RAF1,True,"{ + ""answer"": ""True"" +}" +Bernard-Soulier Syndrome associates Gene GP1BB,True,"{ + ""answer"": ""True"" +}" +Neurofibromatosis 1 associates Gene NF1,True,"{ + ""answer"": ""True"" +}" +Brugada Syndrome (disorder) associates Gene SCN5A,True,"{ + ""answer"": ""True"" +}" +Smith-Lemli-Opitz Syndrome is not associated with Gene DHCR7,False,"{ + ""answer"": ""False"" +}" +Biotinidase Deficiency is not associated with Gene BTD,False,"{ + ""answer"": ""False"" +}" +Allan-Herndon-Dudley syndrome (AHDS) is not associated with Gene SLC16A2,False,"{ + ""answer"": ""False"" +}" +enoxaparin treats obesity,True,"{ + ""answer"": ""False"" +}" +Li-Fraumeni syndrome is a autosomal dominant disease,True,"{ + ""answer"": ""True"" +}" +WHIM syndrome is not associated with Gene CXCR4,False,"{ + ""answer"": ""False"" +}" +multiple endocrine neoplasia type 2B is a autosomal dominant disease,True,"{ + ""answer"": ""True"" +}" +Alstrom Syndrome associates Gene ALMS1,True,"{ + ""answer"": ""True"" +}" +Gyrate Atrophy associates Gene OAT,True,"{ + ""answer"": ""True"" +}" +tuberous sclerosis is a autosomal dominant disease,True,"{ + ""answer"": ""True"" +}" +Fabry disease is not a developmental anomaly of metabolic origin,False,"{ + ""answer"": ""False"" +}" +"Xeroderma Pigmentosum, Complementation Group D associates Gene ERCC2",True,"{ + ""answer"": ""True"" +}" +Argininosuccinic Aciduria associates Gene ASL,True,"{ + ""answer"": ""True"" +}" +Lesch-Nyhan Syndrome associates Gene HPRT1,True,"{ + ""answer"": ""True"" +}" +Creutzfeldt-Jakob disease is not associated with Gene PRNP,False,"{ + ""answer"": ""False"" +}" +BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY is not associated with Gene CYP4V2,False,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for juvenile myoclonic epilepsy is DOID:4890,True,"{ + ""answer"": ""True"" +}" +"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E associates Gene DDB2",True,"{ + ""answer"": ""True"" +}" +anesthetics treats pheochromocytoma,True,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for ornithine carbamoyltransferase deficiency is DOID:9271,True,"{ + ""answer"": ""True"" +}" +Saethre-Chotzen Syndrome is not associated with Gene TWIST1,False,"{ + ""answer"": ""False"" +}" +prothrombin complex concentrates treats hemophilia b,True,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for ethylmalonic encephalopathy is DOID:0060640,True,"{ + ""answer"": ""True"" +}" +Alexander disease is a leukodystrophy,True,"{ + ""answer"": ""True"" +}" +Variant rs2476601 associates Rheumatoid Arthritis,True,"{ + ""answer"": ""True"" +}" +Carney Complex is not associated with Gene PRKAR1A,False,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for Werner syndrome is DOID:0050466,False,"{ + ""answer"": ""True"" +}" +very long chain acyl-CoA dehydrogenase deficiency is not a disorder of fatty acid oxidation and ketogenesis,False,"{ + ""answer"": ""False"" +}" +DOYNE HONEYCOMB RETINAL DYSTROPHY associates Gene EFEMP1,True,"{ + ""answer"": ""True"" +}" +Central Diabetes Insipidus associates Gene AVP,True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for popliteal pterygium syndrome is DOID:0050756,False,"{ + ""answer"": ""True"" +}" +Fragile X Syndrome associates Gene FMR1,True,"{ + ""answer"": ""True"" +}" +Loeys-Dietz Syndrome associates Gene TGFBR2,True,"{ + ""answer"": ""True"" +}" +"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C associates Gene XPC",True,"{ + ""answer"": ""True"" +}" +"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C associates Gene SH3TC2",True,"{ + ""answer"": ""True"" +}" +hereditary hemorrhagic telangiectasia is a autosomal dominant disease,True,"{ + ""answer"": ""True"" +}" +Sandhoff disease is a eye degenerative disorder,True,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for aniridia is DOID:12704,False,"{ + ""answer"": ""True"" +}" +Congenital Generalized Lipodystrophy Type 2 associates Gene BSCL2,True,"{ + ""answer"": ""True"" +}" +Noonan Syndrome associates Gene PTPN11,True,"{ + ""answer"": ""True"" +}" +Juvenile Spinal Muscular Atrophy associates Gene SMN1,True,"{ + ""answer"": ""True"" +}" +"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J associates Gene FIG4",True,"{ + ""answer"": ""True"" +}" +Alkaptonuria associates Gene HGD,True,"{ + ""answer"": ""True"" +}" +Cystinuria is not associated with Gene SLC7A9,False,"{ + ""answer"": ""False"" +}" +Popliteal pterygium syndrome is not associated with Gene IRF6,False,"{ + ""answer"": ""False"" +}" +Aspartylglucosaminuria is not associated with Gene AGA,False,"{ + ""answer"": ""False"" +}" +Nijmegen Breakage Syndrome is not associated with Gene NBN,False,"{ + ""answer"": ""False"" +}" +Mowat-Wilson syndrome is not associated with Gene ZEB2,False,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for fragile X syndrome is DOID:14261,True,"{ + ""answer"": ""True"" +}" +Sarcoma associates Gene TP53,True,"{ + ""answer"": ""True"" +}" +Alstrom syndrome is a ciliopathy,True,"{ + ""answer"": ""True"" +}" +Gray Platelet Syndrome is not associated with Gene NBEAL2,False,"{ + ""answer"": ""False"" +}" +Ethylmalonic encephalopathy is not associated with Gene ETHE1,False,"{ + ""answer"": ""False"" +}" +L-2-HYDROXYGLUTARIC ACIDURIA associates Gene L2HGDH,True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for campomelic dysplasia is DOID:0050463,True,"{ + ""answer"": ""True"" +}" +choroideremia is not a X-linked disease,False,"{ + ""answer"": ""False"" +}" +Coffin-Siris syndrome is a syndromic disease,True,"{ + ""answer"": ""True"" +}" +Nance-Horan syndrome associates Gene NHS,True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for cystinuria is DOID:9266,True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for gray platelet syndrome is DOID:0111044,True,"{ + ""answer"": ""True"" +}" +Maple Syrup Urine Disease associates Gene DBT,True,"{ + ""answer"": ""True"" +}" +Spinocerebellar Ataxia Type 1 is not associated with Gene ATXN1,False,"{ + ""answer"": ""False"" +}" +Holt-Oram syndrome is a autosomal dominant disease,True,"{ + ""answer"": ""True"" +}" +agalsidase alfa treats fabry disease,True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for pseudopseudohypoparathyroidism is DOID:4183,True,"{ + ""answer"": ""False"" +}" +agalsidase beta treats fabry disease,True,"{ + ""answer"": ""True"" +}" +Unverricht-Lundborg Syndrome is not associated with Gene CSTB,False,"{ + ""answer"": ""False"" +}" +L-2-hydroxyglutaric aciduria is not a 2-hydroxyglutaric aciduria,False,"{ + ""answer"": ""False"" +}" +Refsum Disease associates Gene PHYH,True,"{ + ""answer"": ""True"" +}" +Achondroplasia is not associated with Gene FGFR3,False,"{ + ""answer"": ""False"" +}" +pseudoachondroplasia is a osteochondrodysplasia,True,"{ + ""answer"": ""True"" +}" +prasterone treats obesity,True,"{ + ""answer"": ""False"" +}" +LATE-ONSET RETINAL DEGENERATION (disorder) associates Gene C1QTNF5,True,"{ + ""answer"": ""True"" +}" +immunosuppressive agents treats crohn's disease,True,"{ + ""answer"": ""True"" +}" +nail-patella syndrome is a autosomal dominant disease,True,"{ + ""answer"": ""True"" +}" +Mulibrey Nanism is not associated with Gene TRIM37,False,"{ + ""answer"": ""False"" +}" +"Xeroderma pigmentosum, group G is not associated with Gene ERCC5",False,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for Lafora disease is DOID:3534,True,"{ + ""answer"": ""True"" +}" +Brachydactyly type C is not associated with Gene GDF5,False,"{ + ""answer"": ""False"" +}" +Cystinuria is not associated with Gene SLC3A1,False,"{ + ""answer"": ""False"" +}" +Obesity is not associated with Gene MC4R,False,"{ + ""answer"": ""False"" +}" +Kleefstra syndrome 1 is a Kleefstra syndrome,True,"{ + ""answer"": ""True"" +}" +everolimus treats tuberous sclerosis,True,"{ + ""answer"": ""True"" +}" +Autosomal Recessive Polycystic Kidney Disease associates Gene PKHD1,True,"{ + ""answer"": ""True"" +}" +amiloride treats cystic fibrosis,True,"{ + ""answer"": ""True"" +}" +Liver carcinoma associates Gene TP53,True,"{ + ""answer"": ""True"" +}" +Adrenoleukodystrophy associates Gene ABCD1,True,"{ + ""answer"": ""True"" +}" +Tuberous Sclerosis associates Gene TSC2,True,"{ + ""answer"": ""True"" +}" +Myoclonic dystonia is not associated with Gene SGCE,False,"{ + ""answer"": ""False"" +}" +Long QT Syndrome 1 associates Gene KCNQ1,True,"{ + ""answer"": ""True"" +}" +Smith-Magenis syndrome associates Gene RAI1,True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for autosomal dominant hypophosphatemic rickets is DOID:0050948,True,"{ + ""answer"": ""True"" +}" +nitisinone treats alkaptonuria,True,"{ + ""answer"": ""True"" +}" +immune checkpoint inhibitor treats melanoma,True,"{ + ""answer"": ""True"" +}" +Li-Fraumeni Syndrome is not associated with Gene TP53,False,"{ + ""answer"": ""False"" +}" +argininosuccinic aciduria is a amino acid metabolism disease,True,"{ + ""answer"": ""True"" +}" +Hyperargininemia is not associated with Gene ARG1,False,"{ + ""answer"": ""False"" +}" +Fabry Disease associates Gene GLA,True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for beta-mannosidosis is DOID:0111136,False,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for spinocerebellar ataxia type 1 is DOID:0050954,True,"{ + ""answer"": ""True"" +}" +Waardenburg Syndrome Type 1 associates Gene PAX3,True,"{ + ""answer"": ""True"" +}" +Osteosarcoma is not associated with Gene TP53,False,"{ + ""answer"": ""False"" +}" +Mucopolysaccharidosis II associates Gene IDS,True,"{ + ""answer"": ""True"" +}" +"Xeroderma pigmentosum, group F associates Gene ERCC4",True,"{ + ""answer"": ""True"" +}" +Pierson syndrome is not a autosomal recessive disease,False,"{ + ""answer"": ""False"" +}" +Nijmegen breakage syndrome is a autosomal recessive disease,True,"{ + ""answer"": ""True"" +}" +Ellis-Van Creveld Syndrome associates Gene EVC2,True,"{ + ""answer"": ""True"" +}" +X-linked agammaglobulinemia associates Gene BTK,True,"{ + ""answer"": ""True"" +}" +azithromycin treats cystic fibrosis,True,"{ + ""answer"": ""False"" +}" +liraglutide treats obesity,True,"{ + ""answer"": ""True"" +}" +Chediak-Higashi Syndrome associates Gene LYST,True,"{ + ""answer"": ""True"" +}" +"FANCONI ANEMIA, COMPLEMENTATION GROUP D2 is not associated with Gene FANCD2",False,"{ + ""answer"": ""False"" +}" +Wiskott-Aldrich Syndrome is not associated with Gene WAS,False,"{ + ""answer"": ""False"" +}" +Pseudoxanthoma Elasticum associates Gene ABCC6,True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for Omenn syndrome is DOID:3633,False,"{ + ""answer"": ""False"" +}" +Hajdu-Cheney Syndrome associates Gene NOTCH2,True,"{ + ""answer"": ""True"" +}" +Disease ontology identifier for adrenoleukodystrophy is DOID:0060844,False,"{ + ""answer"": ""False"" +}" +antibiotics treats cystic fibrosis,True,"{ + ""answer"": ""False"" +}" +Mosaic variegated aneuploidy syndrome 1 associates Gene BUB1B,True,"{ + ""answer"": ""True"" +}" +Noonan Syndrome associates Gene KRAS,True,"{ + ""answer"": ""True"" +}" +Coffin-Lowry syndrome associates Gene RPS6KA3,True,"{ + ""answer"": ""True"" +}" +Laron Syndrome associates Gene GHR,True,"{ + ""answer"": ""True"" +}" +Leigh Disease associates Gene SURF1,True,"{ + ""answer"": ""True"" +}" +DiGeorge Syndrome is not associated with Gene TBX1,False,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for Nance-Horan syndrome is DOID:0050771,False,"{ + ""answer"": ""True"" +}" +"TIBIAL MUSCULAR DYSTROPHY, TARDIVE associates Gene TTN",True,"{ + ""answer"": ""True"" +}" +protein-tyrosine kinase inhibitor treats sarcoma,True,"{ + ""answer"": ""True"" +}" +Lafora Disease associates Gene EPM2A,True,"{ + ""answer"": ""True"" +}" +Pseudoachondroplasia associates Gene COMP,True,"{ + ""answer"": ""True"" +}" +"Charcot-Marie-Tooth disease, Type 4B1 associates Gene MTMR2",True,"{ + ""answer"": ""True"" +}" +dehydroepiandrosterone treats obesity,True,"{ + ""answer"": ""False"" +}" +Hartnup disease is a inborn disorder of amino acid transport,True,"{ + ""answer"": ""True"" +}" +Farber Lipogranulomatosis is not associated with Gene ASAH1,False,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for Lesch-Nyhan syndrome is DOID:1919,True,"{ + ""answer"": ""True"" +}" +Polycythemia Vera is not associated with Gene JAK2,False,"{ + ""answer"": ""False"" +}" +hyperkalemic periodic paralysis is not a familial periodic paralysis,False,"{ + ""answer"": ""False"" +}" +Coffin-Lowry syndrome is not a X-linked syndromic intellectual disability,False,"{ + ""answer"": ""False"" +}" +macrolide antibiotics treats cystic fibrosis,True,"{ + ""answer"": ""False"" +}" +Pierson syndrome is not associated with Gene LAMB2,False,"{ + ""answer"": ""False"" +}" +CAMPOMELIC DYSPLASIA associates Gene SOX9,True,"{ + ""answer"": ""True"" +}" +Fatal Familial Insomnia is not associated with Gene PRNP,False,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for sitosterolemia is DOID:0090019,True,"{ + ""answer"": ""True"" +}" +Tay-Sachs Disease associates Gene HEXA,True,"{ + ""answer"": ""True"" +}" +beta-Mannosidosis is not associated with Gene MANBA,False,"{ + ""answer"": ""False"" +}" +Noonan Syndrome associates Gene SOS1,True,"{ + ""answer"": ""True"" +}" +Obesity is not associated with Gene PPARG,False,"{ + ""answer"": ""False"" +}" +Congenital amegakaryocytic thrombocytopenia is not associated with Gene MPL,False,"{ + ""answer"": ""False"" +}" +Leigh Disease associates Gene NDUFS4,True,"{ + ""answer"": ""True"" +}" +Sandhoff Disease is not associated with Gene HEXB,False,"{ + ""answer"": ""False"" +}" +Disease ontology identifier for Doyne honeycomb retinal dystrophy is DOID:0081055,False,"{ + ""answer"": ""True"" +}" +Juvenile polyposis syndrome associates Gene BMPR1A,True,"{ + ""answer"": ""True"" +}" |