question,label,llm_answer
enhanced S-cone syndrome is not a vitreoretinal degeneration,False,"{{
  ""answer"": ""True""
}}"
metronidazole treats crohn's disease,True,"{{
  ""answer"": ""False""
}}"
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"": ""True""
}"
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"": ""True""
}"
Tangier Disease is not associated with Gene ABCA1,False,"{{
  ""answer"": ""False""
}}"
Disease ontology identifier for central diabetes insipidus is DOID:350,False,"{{
  ""answer"": ""True""
}}"
Ulnar-mammary syndrome is not associated with Gene TBX3,False,"{
  ""answer"": ""False""
}"
bevacizumab treats hereditary hemorrhagic telangiectasia,True,"{{
  ""answer"": ""False""
}}"
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"": ""False""
}"
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"": ""False""
}"
Acute intermittent porphyria is not associated with Gene HMBS,False,"{
  ""answer"": ""False""
}"
melphalan treats melanoma,True,"{{
  ""answer"": ""False""
}}"
piebaldism is a autosomal dominant disease,True,"{
  ""answer"": ""False""
}"
vitelliform macular dystrophy is not a macular degeneration,False,"{{
  ""answer"": ""True""
}}"
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"": ""False""
}"
Mucopolysaccharidosis VI associates Gene ARSB,True,"{
  ""answer"": ""True""
}"
"HEMOCHROMATOSIS, TYPE 4 associates Gene SLC40A1",True,"{
  ""answer"": ""False""
}"
"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"": ""True""
}}"
familial Mediterranean fever is not a primary immunodeficiency due to a genetic defect in innate immunity,False,"{{
  ""answer"": ""True""
}}"
Hemophilia B is not associated with Gene F9,False,"{
  ""answer"": ""False""
}"
Rapp-Hodgkin syndrome is a autosomal dominant disease,True,"{
  ""answer"": ""False""
}"
Borjeson-Forssman-Lehmann syndrome is not associated with Gene PHF6,False,"{
  ""answer"": ""True""
}"
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"": ""True""
}}"
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"": ""True""
}}"
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"": ""False""
}}"
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"": ""True""
}}"
"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"": ""True""
}"
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"": ""True""
}}"
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"": ""False""
}"
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"": ""True""
}"
Hajdu-Cheney Syndrome associates Gene NOTCH2,True,"{
  ""answer"": ""True""
}"
Disease ontology identifier for adrenoleukodystrophy is DOID:0060844,False,"{{
  ""answer"": ""True""
}}"
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"": ""False""
}"
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"": ""True""
}"
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""
}"