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