| 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 |
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