,text,label
0,enhanced S-cone syndrome is not a vitreoretinal degeneration,False
1,metronidazole treats crohn's disease,True
2,KLEEFSTRA SYNDROME 1 is not associated with Gene EHMT1,False
3,Juvenile polyposis syndrome associates Gene SMAD4,True
4,Disease ontology identifier for congenital generalized lipodystrophy type 2 is DOID:10588,False
5,Disease ontology identifier for Marfan syndrome is DOID:0060055,False
6,cystic fibrosis is a respiratory system disorder,True
7,alpha-Mannosidosis associates Gene MAN2B1,True
8,Wolcott-Rallison syndrome associates Gene EIF2AK3,True
9,Neurofibromatosis 2 is not associated with Gene NF2,False
10,Angelman syndrome is a syndromic disease,True
11,colchicine treats familial mediterranean fever,True
12,Marfan Syndrome associates Gene FBN1,True
13,Mowat-Wilson syndrome is a syndromic intellectual disability,True
14,mulibrey nanism is a syndromic disease,True
15,Disease ontology identifier for pheochromocytoma is DOID:14692,False
16,Tangier Disease is not associated with Gene ABCA1,False
17,Disease ontology identifier for central diabetes insipidus is DOID:350,False
18,Ulnar-mammary syndrome is not associated with Gene TBX3,False
19,bevacizumab treats hereditary hemorrhagic telangiectasia,True
20,Liver carcinoma is not associated with Gene MET,False
21,Antithrombin III Deficiency is not associated with Gene SERPINC1,False
22,Mastocytosis is not associated with Gene KIT,False
23,Disease ontology identifier for Farber lipogranulomatosis is DOID:0050464,True
24,Familial Mediterranean Fever associates Gene MEFV,True
25,Disease ontology identifier for Wiskott-Aldrich syndrome is DOID:9169,True
26,Tay-Sachs disease is not a eye degenerative disorder,False
28,Juvenile Myoclonic Epilepsy is not associated with Gene EFHC1,False
29,Costello syndrome (disorder) is not associated with Gene HRAS,False
30,Very long chain acyl-CoA dehydrogenase deficiency is not associated with Gene ACADVL,False
31,Wolman disease is a lysosomal acid lipase deficiency,True
32,Fibrodysplasia Ossificans Progressiva associates Gene ACVR1,True
33,Canavan Disease associates Gene ASPA,True
34,Chediak-Higashi syndrome is a congenital nervous system disorder,True
35,Hereditary hemorrhagic telangiectasia associates Gene ENG,True
36,Lafora Disease is not associated with Gene NHLRC1,False
37,Pheochromocytoma is not associated with Gene RET,False
38,"Xeroderma pigmentosum, group B associates Gene ERCC3",True
39,Acute intermittent porphyria is not associated with Gene HMBS,False
41,piebaldism is a autosomal dominant disease,True
42,vitelliform macular dystrophy is not a macular degeneration,False
43,Spinocerebellar Ataxia Type 5 associates Gene SPTBN2,True
44,Disease ontology identifier for Pelizaeus-Merzbacher disease is DOID:5688,False
45,"Robinow syndrome, autosomal recessive associates Gene ROR2",True
46,Disease ontology identifier for Loeys-Dietz syndrome is DOID:0060745,False
47,Cystic Fibrosis associates Gene CFTR,True
48,Greig cephalopolysyndactyly syndrome associates Gene GLI3,True
49,alkaptonuria is not a disorder of tyrosine metabolism,False
50,Timothy syndrome associates Gene CACNA1C,True
51,Unverricht-Lundborg syndrome is a movement disorder,True
52,Denys-Drash syndrome is a autosomal dominant disease,True
53,factor ix treats hemophilia b,True
55,Mucopolysaccharidosis VI associates Gene ARSB,True
56,"HEMOCHROMATOSIS, TYPE 4 associates Gene SLC40A1",True
57,"Charcot-Marie-Tooth Disease, Type Ib associates Gene MPZ",True
58,Disease ontology identifier for Timothy syndrome is DOID:0060173,True
59,Denys-Drash Syndrome is not associated with Gene WT1,False
60,Cherubism associates Gene SH3BP2,True
61,PITT-HOPKINS SYNDROME is not associated with Gene TCF4,False
62,Greig cephalopolysyndactyly syndrome is not a syndromic disease,False
63,Paroxysmal Nonkinesigenic Dyskinesia 1 is not associated with Gene PNKD,False
64,Enhanced S-Cone Syndrome is not associated with Gene NR2E3,False
65,Canavan disease is a inborn aminoacylase deficiency,True
66,Episodic ataxia type 2 (disorder) is not associated with Gene CACNA1A,False
67,Aniridia is not associated with Gene PAX6,False
68,Congenital contractural arachnodactyly associates Gene FBN2,True
69,Muenke Syndrome associates Gene FGFR3,True
70,Carney complex is a autosomal dominant disease,True
71,Borjeson-Forssman-Lehmann syndrome is not a X-linked syndromic intellectual disability,False
72,Johanson-Blizzard syndrome associates Gene UBR1,True
73,MASA SYNDROME (disorder) is not associated with Gene L1CAM,False
74,Autosomal dominant hypophosphatemic rickets associates Gene FGF23,True
75,Acrodermatitis enteropathica associates Gene SLC39A4,True
76,Rothmund-Thomson syndrome is not associated with Gene RECQL4,False
77,Cleidocranial Dysplasia associates Gene RUNX2,True
78,LONG QT SYNDROME 3 associates Gene SCN5A,True
79,Infantile hypophosphatasia associates Gene ALPL,True
80,acrodermatitis enteropathica is not a inborn metal metabolism disorder,False
81,Ataxia Telangiectasia associates Gene ATM,True
82,alpha-galactosidase treats fabry disease,True
83,Laron syndrome is a autosomal recessive disease,True
84,Piebaldism associates Gene KIT,True
85,Pfeiffer Syndrome associates Gene FGFR2,True
86,"Bernard-Soulier syndrome is a inherited bleeding disorder, platelet-type",True
87,Burkitt Lymphoma is not associated with Gene MYC,False
88,Ornithine carbamoyltransferase deficiency associates Gene OTC,True
89,Nail-Patella Syndrome associates Gene LMX1B,True
90,Tetralogy of Fallot associates Gene ZFPM2,True
91,Hartnup Disease is not associated with Gene SLC6A19,False
92,Disease ontology identifier for fibrodysplasia ossificans progressiva is DOID:13374,True
93,familial Mediterranean fever is not a primary immunodeficiency due to a genetic defect in innate immunity,False
94,Hemophilia B is not associated with Gene F9,False
95,Rapp-Hodgkin syndrome is a autosomal dominant disease,True
96,Borjeson-Forssman-Lehmann syndrome is not associated with Gene PHF6,False
97,Multiple Endocrine Neoplasia Type 2b associates Gene RET,True
98,Choroideremia is not associated with Gene CHM,False
99,Wolman Disease associates Gene LIPA,True
100,Adenine phosphoribosyltransferase deficiency associates Gene APRT,True
101,Holt-Oram syndrome is not associated with Gene TBX5,False
102,tetralogy of fallot is not a hereditary disease,False
103,Disease ontology identifier for mosaic variegated aneuploidy syndrome 1 is DOID:0080141,True
104,hemophilia B is a hemorrhagic disease,True
105,fatal familial insomnia is not a insomnia,False
106,Disease ontology identifier for mastocytosis is DOID:0060768,False
107,osteosarcoma is a sarcoma,True
108,immune checkpoint inhibitors treats melanoma,True
109,Johanson-Blizzard syndrome is a congenital nervous system disorder,True
110,Achondroplasia is not a osteochondrodysplasia,False
111,KUFOR-RAKEB SYNDROME associates Gene ATP13A2,True
112,Loeys-Dietz Syndrome associates Gene TGFBR1,True
113,Disease ontology identifier for Rothmund-Thomson syndrome is DOID:2732,True
114,Angelman Syndrome is not associated with Gene UBE3A,False
115,biotinidase deficiency is not a multiple carboxylase deficiency,False
116,6-mercaptopurine treats crohn's disease,True
117,Wolcott-Rallison syndrome is a syndromic disease,True
118,Disease ontology identifier for spinocerebellar ataxia type 5 is DOID:0050882,False
119,Pseudopseudohypoparathyroidism associates Gene GNAS,True
120,alveolar rhabdomyosarcoma is not a rhabdomyosarcoma,False
121,Disease ontology identifier for Norrie disease is DOID:0060599,False
123,argipressin treats central diabetes insipidus,True
124,Omenn Syndrome associates Gene RAG2,True
125,adenine phosphoribosyltransferase deficiency is a inborn disorder of amino acid metabolism,True
126,Progeria associates Gene LMNA,True
127,mercaptopurine treats crohn's disease,True
128,Peutz-Jeghers Syndrome associates Gene STK11,True
130,Noonan syndrome is a multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome,True
131,RAPP-HODGKIN SYNDROME associates Gene TP63,True
132,Bernard-Soulier Syndrome associates Gene GP1BA,True
133,Spinocerebellar Ataxia Type 6 (disorder) associates Gene CACNA1A,True
134,Werner Syndrome associates Gene WRN,True
135,sarcoma is a cancer,True
136,brachydactyly type C is a brachydactyly,True
137,Alveolar rhabdomyosarcoma associates Gene PAX3,True
138,CHARGE Syndrome is not associated with Gene CHD7,False
139,Ellis-van Creveld syndrome is not a heart disorder,False
140,Pelizaeus-Merzbacher Disease associates Gene PLP1,True
141,Microvillus inclusion disease is not associated with Gene MYO5B,False
142,DiGeorge syndrome is a congenital T-cell immunodeficiency,True
143,melanoma associates Gene BRAF,True
144,"Basal ganglia disease, biotin-responsive associates Gene SLC19A3",True
145,Coffin-Siris syndrome associates Gene ARID1B,True
146,Sitosterolemia is not associated with Gene ABCG8,False
147,Alexander Disease associates Gene GFAP,True
148,pembrolizumab treats melanoma,True
149,congenital contractural arachnodactyly is not a congenital nervous system disorder,False
150,cherubism is not a autosomal dominant disease,False
151,Norrie disease associates Gene NDP,True
152,Hyperkalemic periodic paralysis is not associated with Gene SCN4A,False
153,Disease ontology identifier for ataxia telangiectasia is DOID:0060010,False
154,"Xeroderma pigmentosum, group A associates Gene XPA",True
156,antineoplastic agents treats osteosarcoma,True
157,Jervell-Lange Nielsen Syndrome is not associated with Gene KCNQ1,False
159,Pitt-Hopkins syndrome is a syndromic disease,True
160,POLYCYSTIC KIDNEY DISEASE 1 associates Gene PKD1,True
161,Disease ontology identifier for Tangier disease is DOID:1388,True
162,Disease ontology identifier for Smith-Lemli-Opitz syndrome is DOID:0080026,False
163,alpha-d-galactosidase enzyme treats fabry disease,True
164,Burkitt lymphoma is a neoplasm of mature B-cells,True
165,Vitelliform Macular Dystrophy associates Gene BEST1,True
166,Disease ontology identifier for Smith-Magenis syndrome is DOID:12271,False
167,Noonan Syndrome associates Gene RAF1,True
168,Bernard-Soulier Syndrome associates Gene GP1BB,True
169,Neurofibromatosis 1 associates Gene NF1,True
170,Brugada Syndrome (disorder) associates Gene SCN5A,True
171,Smith-Lemli-Opitz Syndrome is not associated with Gene DHCR7,False
172,Biotinidase Deficiency is not associated with Gene BTD,False
173,Allan-Herndon-Dudley syndrome (AHDS) is not associated with Gene SLC16A2,False
175,Li-Fraumeni syndrome is a autosomal dominant disease,True
176,WHIM syndrome is not associated with Gene CXCR4,False
177,multiple endocrine neoplasia type 2B is a autosomal dominant disease,True
178,Alstrom Syndrome associates Gene ALMS1,True
179,Gyrate Atrophy associates Gene OAT,True
180,tuberous sclerosis is a autosomal dominant disease,True
181,Fabry disease is not a developmental anomaly of metabolic origin,False
182,"Xeroderma Pigmentosum, Complementation Group D associates Gene ERCC2",True
183,Argininosuccinic Aciduria associates Gene ASL,True
184,Lesch-Nyhan Syndrome associates Gene HPRT1,True
185,Creutzfeldt-Jakob disease is not associated with Gene PRNP,False
186,BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY is not associated with Gene CYP4V2,False
187,Disease ontology identifier for juvenile myoclonic epilepsy is DOID:4890,True
188,"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E associates Gene DDB2",True
190,Disease ontology identifier for ornithine carbamoyltransferase deficiency is DOID:9271,True
191,Saethre-Chotzen Syndrome is not associated with Gene TWIST1,False
192,prothrombin complex concentrates treats hemophilia b,True
193,Disease ontology identifier for ethylmalonic encephalopathy is DOID:0060640,True
194,Alexander disease is a leukodystrophy,True
195,Variant rs2476601 associates Rheumatoid Arthritis,True
196,Carney Complex is not associated with Gene PRKAR1A,False
197,Disease ontology identifier for Werner syndrome is DOID:0050466,False
198,very long chain acyl-CoA dehydrogenase deficiency is not a disorder of fatty acid oxidation and ketogenesis,False
199,DOYNE HONEYCOMB RETINAL DYSTROPHY associates Gene EFEMP1,True
200,Central Diabetes Insipidus associates Gene AVP,True
201,Disease ontology identifier for popliteal pterygium syndrome is DOID:0050756,False
202,Fragile X Syndrome associates Gene FMR1,True
203,Loeys-Dietz Syndrome associates Gene TGFBR2,True
204,"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C associates Gene XPC",True
205,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C associates Gene SH3TC2",True
206,hereditary hemorrhagic telangiectasia is a autosomal dominant disease,True
207,Sandhoff disease is a eye degenerative disorder,True
208,Disease ontology identifier for aniridia is DOID:12704,False
209,Congenital Generalized Lipodystrophy Type 2 associates Gene BSCL2,True
210,Noonan Syndrome associates Gene PTPN11,True
211,Juvenile Spinal Muscular Atrophy associates Gene SMN1,True
212,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J associates Gene FIG4",True
213,Alkaptonuria associates Gene HGD,True
214,Cystinuria is not associated with Gene SLC7A9,False
215,Popliteal pterygium syndrome is not associated with Gene IRF6,False
216,Aspartylglucosaminuria is not associated with Gene AGA,False
217,Nijmegen Breakage Syndrome is not associated with Gene NBN,False
218,Mowat-Wilson syndrome is not associated with Gene ZEB2,False
219,Disease ontology identifier for fragile X syndrome is DOID:14261,True
220,Sarcoma associates Gene TP53,True
221,Alstrom syndrome is a ciliopathy,True
222,Gray Platelet Syndrome is not associated with Gene NBEAL2,False
223,Ethylmalonic encephalopathy is not associated with Gene ETHE1,False
224,L-2-HYDROXYGLUTARIC ACIDURIA associates Gene L2HGDH,True
225,Disease ontology identifier for campomelic dysplasia is DOID:0050463,True
226,choroideremia is not a X-linked disease,False
227,Coffin-Siris syndrome is a syndromic disease,True
228,Nance-Horan syndrome associates Gene NHS,True
229,Disease ontology identifier for cystinuria is DOID:9266,True
230,Disease ontology identifier for gray platelet syndrome is DOID:0111044,True
231,Maple Syrup Urine Disease associates Gene DBT,True
232,Spinocerebellar Ataxia Type 1 is not associated with Gene ATXN1,False
233,Holt-Oram syndrome is a autosomal dominant disease,True
234,agalsidase alfa treats fabry disease,True
235,Disease ontology identifier for pseudopseudohypoparathyroidism is DOID:4183,True
236,agalsidase beta treats fabry disease,True
237,Unverricht-Lundborg Syndrome is not associated with Gene CSTB,False
238,L-2-hydroxyglutaric aciduria is not a 2-hydroxyglutaric aciduria,False
239,Refsum Disease associates Gene PHYH,True
240,Achondroplasia is not associated with Gene FGFR3,False
241,pseudoachondroplasia is a osteochondrodysplasia,True
243,LATE-ONSET RETINAL DEGENERATION (disorder) associates Gene C1QTNF5,True
244,immunosuppressive agents treats crohn's disease,True
245,nail-patella syndrome is a autosomal dominant disease,True
246,Mulibrey Nanism is not associated with Gene TRIM37,False
247,"Xeroderma pigmentosum, group G is not associated with Gene ERCC5",False
248,Disease ontology identifier for Lafora disease is DOID:3534,True
249,Brachydactyly type C is not associated with Gene GDF5,False
250,Cystinuria is not associated with Gene SLC3A1,False
251,Obesity is not associated with Gene MC4R,False
252,Kleefstra syndrome 1 is a Kleefstra syndrome,True
253,everolimus treats tuberous sclerosis,True
254,Autosomal Recessive Polycystic Kidney Disease associates Gene PKHD1,True
255,amiloride treats cystic fibrosis,True
256,Liver carcinoma associates Gene TP53,True
257,Adrenoleukodystrophy associates Gene ABCD1,True
258,Tuberous Sclerosis associates Gene TSC2,True
259,Myoclonic dystonia is not associated with Gene SGCE,False
260,Long QT Syndrome 1 associates Gene KCNQ1,True
261,Smith-Magenis syndrome associates Gene RAI1,True
262,Disease ontology identifier for autosomal dominant hypophosphatemic rickets is DOID:0050948,True
263,nitisinone treats alkaptonuria,True
264,immune checkpoint inhibitor treats melanoma,True
265,Li-Fraumeni Syndrome is not associated with Gene TP53,False
266,argininosuccinic aciduria is a amino acid metabolism disease,True
267,Hyperargininemia is not associated with Gene ARG1,False
268,Fabry Disease associates Gene GLA,True
269,Disease ontology identifier for beta-mannosidosis is DOID:0111136,False
270,Disease ontology identifier for spinocerebellar ataxia type 1 is DOID:0050954,True
271,Waardenburg Syndrome Type 1 associates Gene PAX3,True
272,Osteosarcoma is not associated with Gene TP53,False
273,Mucopolysaccharidosis II associates Gene IDS,True
274,"Xeroderma pigmentosum, group F associates Gene ERCC4",True
275,Pierson syndrome is not a autosomal recessive disease,False
276,Nijmegen breakage syndrome is a autosomal recessive disease,True
277,Ellis-Van Creveld Syndrome associates Gene EVC2,True
278,X-linked agammaglobulinemia associates Gene BTK,True
279,azithromycin treats cystic fibrosis,True
280,liraglutide treats obesity,True
281,Chediak-Higashi Syndrome associates Gene LYST,True
282,"FANCONI ANEMIA, COMPLEMENTATION GROUP D2 is not associated with Gene FANCD2",False
283,Wiskott-Aldrich Syndrome is not associated with Gene WAS,False
284,Pseudoxanthoma Elasticum associates Gene ABCC6,True
285,Disease ontology identifier for Omenn syndrome is DOID:3633,False
286,Hajdu-Cheney Syndrome associates Gene NOTCH2,True
287,Disease ontology identifier for adrenoleukodystrophy is DOID:0060844,False
288,antibiotics treats cystic fibrosis,True
289,Mosaic variegated aneuploidy syndrome 1 associates Gene BUB1B,True
290,Noonan Syndrome associates Gene KRAS,True
291,Coffin-Lowry syndrome associates Gene RPS6KA3,True
292,Laron Syndrome associates Gene GHR,True
293,Leigh Disease associates Gene SURF1,True
294,DiGeorge Syndrome is not associated with Gene TBX1,False
295,Disease ontology identifier for Nance-Horan syndrome is DOID:0050771,False
296,"TIBIAL MUSCULAR DYSTROPHY, TARDIVE associates Gene TTN",True
297,protein-tyrosine kinase inhibitor treats sarcoma,True
298,Lafora Disease associates Gene EPM2A,True
299,Pseudoachondroplasia associates Gene COMP,True
300,"Charcot-Marie-Tooth disease, Type 4B1 associates Gene MTMR2",True
302,Hartnup disease is a inborn disorder of amino acid transport,True
303,Farber Lipogranulomatosis is not associated with Gene ASAH1,False
304,Disease ontology identifier for Lesch-Nyhan syndrome is DOID:1919,True
305,Polycythemia Vera is not associated with Gene JAK2,False
306,hyperkalemic periodic paralysis is not a familial periodic paralysis,False
307,Coffin-Lowry syndrome is not a X-linked syndromic intellectual disability,False
308,macrolide antibiotics treats cystic fibrosis,True
309,Pierson syndrome is not associated with Gene LAMB2,False
310,CAMPOMELIC DYSPLASIA associates Gene SOX9,True
311,Fatal Familial Insomnia is not associated with Gene PRNP,False
312,Disease ontology identifier for sitosterolemia is DOID:0090019,True
313,Tay-Sachs Disease associates Gene HEXA,True
314,beta-Mannosidosis is not associated with Gene MANBA,False
315,Noonan Syndrome associates Gene SOS1,True
316,Obesity is not associated with Gene PPARG,False
317,Congenital amegakaryocytic thrombocytopenia is not associated with Gene MPL,False
318,Leigh Disease associates Gene NDUFS4,True
319,Sandhoff Disease is not associated with Gene HEXB,False
320,Disease ontology identifier for Doyne honeycomb retinal dystrophy is DOID:0081055,False
321,Juvenile polyposis syndrome associates Gene BMPR1A,True