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"" }"