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KG_RAG/data/benchmark_data/true_false_questions.csv
2024-03-19 15:22:53 -07:00

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20enhanced S-cone syndrome is not a vitreoretinal degenerationFalse
31metronidazole treats crohn's diseaseTrue
42KLEEFSTRA SYNDROME 1 is not associated with Gene EHMT1False
53Juvenile polyposis syndrome associates Gene SMAD4True
64Disease ontology identifier for congenital generalized lipodystrophy type 2 is DOID:10588False
75Disease ontology identifier for Marfan syndrome is DOID:0060055False
86cystic fibrosis is a respiratory system disorderTrue
97alpha-Mannosidosis associates Gene MAN2B1True
108Wolcott-Rallison syndrome associates Gene EIF2AK3True
119Neurofibromatosis 2 is not associated with Gene NF2False
1210Angelman syndrome is a syndromic diseaseTrue
1311colchicine treats familial mediterranean feverTrue
1412Marfan Syndrome associates Gene FBN1True
1513Mowat-Wilson syndrome is a syndromic intellectual disabilityTrue
1614mulibrey nanism is a syndromic diseaseTrue
1715Disease ontology identifier for pheochromocytoma is DOID:14692False
1816Tangier Disease is not associated with Gene ABCA1False
1917Disease ontology identifier for central diabetes insipidus is DOID:350False
2018Ulnar-mammary syndrome is not associated with Gene TBX3False
2119bevacizumab treats hereditary hemorrhagic telangiectasiaTrue
2220Liver carcinoma is not associated with Gene METFalse
2321Antithrombin III Deficiency is not associated with Gene SERPINC1False
2422Mastocytosis is not associated with Gene KITFalse
2523Disease ontology identifier for Farber lipogranulomatosis is DOID:0050464True
2624Familial Mediterranean Fever associates Gene MEFVTrue
2725Disease ontology identifier for Wiskott-Aldrich syndrome is DOID:9169True
2826Tay-Sachs disease is not a eye degenerative disorderFalse
2928Juvenile Myoclonic Epilepsy is not associated with Gene EFHC1False
3029Costello syndrome (disorder) is not associated with Gene HRASFalse
3130Very long chain acyl-CoA dehydrogenase deficiency is not associated with Gene ACADVLFalse
3231Wolman disease is a lysosomal acid lipase deficiencyTrue
3332Fibrodysplasia Ossificans Progressiva associates Gene ACVR1True
3433Canavan Disease associates Gene ASPATrue
3534Chediak-Higashi syndrome is a congenital nervous system disorderTrue
3635Hereditary hemorrhagic telangiectasia associates Gene ENGTrue
3736Lafora Disease is not associated with Gene NHLRC1False
3837Pheochromocytoma is not associated with Gene RETFalse
3938Xeroderma pigmentosum, group B associates Gene ERCC3True
4039Acute intermittent porphyria is not associated with Gene HMBSFalse
4141piebaldism is a autosomal dominant diseaseTrue
4242vitelliform macular dystrophy is not a macular degenerationFalse
4343Spinocerebellar Ataxia Type 5 associates Gene SPTBN2True
4444Disease ontology identifier for Pelizaeus-Merzbacher disease is DOID:5688False
4545Robinow syndrome, autosomal recessive associates Gene ROR2True
4646Disease ontology identifier for Loeys-Dietz syndrome is DOID:0060745False
4747Cystic Fibrosis associates Gene CFTRTrue
4848Greig cephalopolysyndactyly syndrome associates Gene GLI3True
4949alkaptonuria is not a disorder of tyrosine metabolismFalse
5050Timothy syndrome associates Gene CACNA1CTrue
5151Unverricht-Lundborg syndrome is a movement disorderTrue
5252Denys-Drash syndrome is a autosomal dominant diseaseTrue
5353factor ix treats hemophilia bTrue
5455Mucopolysaccharidosis VI associates Gene ARSBTrue
5556HEMOCHROMATOSIS, TYPE 4 associates Gene SLC40A1True
5657Charcot-Marie-Tooth Disease, Type Ib associates Gene MPZTrue
5758Disease ontology identifier for Timothy syndrome is DOID:0060173True
5859Denys-Drash Syndrome is not associated with Gene WT1False
5960Cherubism associates Gene SH3BP2True
6061PITT-HOPKINS SYNDROME is not associated with Gene TCF4False
6162Greig cephalopolysyndactyly syndrome is not a syndromic diseaseFalse
6263Paroxysmal Nonkinesigenic Dyskinesia 1 is not associated with Gene PNKDFalse
6364Enhanced S-Cone Syndrome is not associated with Gene NR2E3False
6465Canavan disease is a inborn aminoacylase deficiencyTrue
6566Episodic ataxia type 2 (disorder) is not associated with Gene CACNA1AFalse
6667Aniridia is not associated with Gene PAX6False
6768Congenital contractural arachnodactyly associates Gene FBN2True
6869Muenke Syndrome associates Gene FGFR3True
6970Carney complex is a autosomal dominant diseaseTrue
7071Borjeson-Forssman-Lehmann syndrome is not a X-linked syndromic intellectual disabilityFalse
7172Johanson-Blizzard syndrome associates Gene UBR1True
7273MASA SYNDROME (disorder) is not associated with Gene L1CAMFalse
7374Autosomal dominant hypophosphatemic rickets associates Gene FGF23True
7475Acrodermatitis enteropathica associates Gene SLC39A4True
7576Rothmund-Thomson syndrome is not associated with Gene RECQL4False
7677Cleidocranial Dysplasia associates Gene RUNX2True
7778LONG QT SYNDROME 3 associates Gene SCN5ATrue
7879Infantile hypophosphatasia associates Gene ALPLTrue
7980acrodermatitis enteropathica is not a inborn metal metabolism disorderFalse
8081Ataxia Telangiectasia associates Gene ATMTrue
8182alpha-galactosidase treats fabry diseaseTrue
8283Laron syndrome is a autosomal recessive diseaseTrue
8384Piebaldism associates Gene KITTrue
8485Pfeiffer Syndrome associates Gene FGFR2True
8586Bernard-Soulier syndrome is a inherited bleeding disorder, platelet-typeTrue
8687Burkitt Lymphoma is not associated with Gene MYCFalse
8788Ornithine carbamoyltransferase deficiency associates Gene OTCTrue
8889Nail-Patella Syndrome associates Gene LMX1BTrue
8990Tetralogy of Fallot associates Gene ZFPM2True
9091Hartnup Disease is not associated with Gene SLC6A19False
9192Disease ontology identifier for fibrodysplasia ossificans progressiva is DOID:13374True
9293familial Mediterranean fever is not a primary immunodeficiency due to a genetic defect in innate immunityFalse
9394Hemophilia B is not associated with Gene F9False
9495Rapp-Hodgkin syndrome is a autosomal dominant diseaseTrue
9596Borjeson-Forssman-Lehmann syndrome is not associated with Gene PHF6False
9697Multiple Endocrine Neoplasia Type 2b associates Gene RETTrue
9798Choroideremia is not associated with Gene CHMFalse
9899Wolman Disease associates Gene LIPATrue
99100Adenine phosphoribosyltransferase deficiency associates Gene APRTTrue
100101Holt-Oram syndrome is not associated with Gene TBX5False
101102tetralogy of fallot is not a hereditary diseaseFalse
102103Disease ontology identifier for mosaic variegated aneuploidy syndrome 1 is DOID:0080141True
103104hemophilia B is a hemorrhagic diseaseTrue
104105fatal familial insomnia is not a insomniaFalse
105106Disease ontology identifier for mastocytosis is DOID:0060768False
106107osteosarcoma is a sarcomaTrue
107108immune checkpoint inhibitors treats melanomaTrue
108109Johanson-Blizzard syndrome is a congenital nervous system disorderTrue
109110Achondroplasia is not a osteochondrodysplasiaFalse
110111KUFOR-RAKEB SYNDROME associates Gene ATP13A2True
111112Loeys-Dietz Syndrome associates Gene TGFBR1True
112113Disease ontology identifier for Rothmund-Thomson syndrome is DOID:2732True
113114Angelman Syndrome is not associated with Gene UBE3AFalse
114115biotinidase deficiency is not a multiple carboxylase deficiencyFalse
1151166-mercaptopurine treats crohn's diseaseTrue
116117Wolcott-Rallison syndrome is a syndromic diseaseTrue
117118Disease ontology identifier for spinocerebellar ataxia type 5 is DOID:0050882False
118119Pseudopseudohypoparathyroidism associates Gene GNASTrue
119120alveolar rhabdomyosarcoma is not a rhabdomyosarcomaFalse
120121Disease ontology identifier for Norrie disease is DOID:0060599False
121123argipressin treats central diabetes insipidusTrue
122124Omenn Syndrome associates Gene RAG2True
123125adenine phosphoribosyltransferase deficiency is a inborn disorder of amino acid metabolismTrue
124126Progeria associates Gene LMNATrue
125127mercaptopurine treats crohn's diseaseTrue
126128Peutz-Jeghers Syndrome associates Gene STK11True
127130Noonan syndrome is a multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndromeTrue
128131RAPP-HODGKIN SYNDROME associates Gene TP63True
129132Bernard-Soulier Syndrome associates Gene GP1BATrue
130133Spinocerebellar Ataxia Type 6 (disorder) associates Gene CACNA1ATrue
131134Werner Syndrome associates Gene WRNTrue
132135sarcoma is a cancerTrue
133136brachydactyly type C is a brachydactylyTrue
134137Alveolar rhabdomyosarcoma associates Gene PAX3True
135138CHARGE Syndrome is not associated with Gene CHD7False
136139Ellis-van Creveld syndrome is not a heart disorderFalse
137140Pelizaeus-Merzbacher Disease associates Gene PLP1True
138141Microvillus inclusion disease is not associated with Gene MYO5BFalse
139142DiGeorge syndrome is a congenital T-cell immunodeficiencyTrue
140143melanoma associates Gene BRAFTrue
141144Basal ganglia disease, biotin-responsive associates Gene SLC19A3True
142145Coffin-Siris syndrome associates Gene ARID1BTrue
143146Sitosterolemia is not associated with Gene ABCG8False
144147Alexander Disease associates Gene GFAPTrue
145148pembrolizumab treats melanomaTrue
146149congenital contractural arachnodactyly is not a congenital nervous system disorderFalse
147150cherubism is not a autosomal dominant diseaseFalse
148151Norrie disease associates Gene NDPTrue
149152Hyperkalemic periodic paralysis is not associated with Gene SCN4AFalse
150153Disease ontology identifier for ataxia telangiectasia is DOID:0060010False
151154Xeroderma pigmentosum, group A associates Gene XPATrue
152156antineoplastic agents treats osteosarcomaTrue
153157Jervell-Lange Nielsen Syndrome is not associated with Gene KCNQ1False
154159Pitt-Hopkins syndrome is a syndromic diseaseTrue
155160POLYCYSTIC KIDNEY DISEASE 1 associates Gene PKD1True
156161Disease ontology identifier for Tangier disease is DOID:1388True
157162Disease ontology identifier for Smith-Lemli-Opitz syndrome is DOID:0080026False
158163alpha-d-galactosidase enzyme treats fabry diseaseTrue
159164Burkitt lymphoma is a neoplasm of mature B-cellsTrue
160165Vitelliform Macular Dystrophy associates Gene BEST1True
161166Disease ontology identifier for Smith-Magenis syndrome is DOID:12271False
162167Noonan Syndrome associates Gene RAF1True
163168Bernard-Soulier Syndrome associates Gene GP1BBTrue
164169Neurofibromatosis 1 associates Gene NF1True
165170Brugada Syndrome (disorder) associates Gene SCN5ATrue
166171Smith-Lemli-Opitz Syndrome is not associated with Gene DHCR7False
167172Biotinidase Deficiency is not associated with Gene BTDFalse
168173Allan-Herndon-Dudley syndrome (AHDS) is not associated with Gene SLC16A2False
169175Li-Fraumeni syndrome is a autosomal dominant diseaseTrue
170176WHIM syndrome is not associated with Gene CXCR4False
171177multiple endocrine neoplasia type 2B is a autosomal dominant diseaseTrue
172178Alstrom Syndrome associates Gene ALMS1True
173179Gyrate Atrophy associates Gene OATTrue
174180tuberous sclerosis is a autosomal dominant diseaseTrue
175181Fabry disease is not a developmental anomaly of metabolic originFalse
176182Xeroderma Pigmentosum, Complementation Group D associates Gene ERCC2True
177183Argininosuccinic Aciduria associates Gene ASLTrue
178184Lesch-Nyhan Syndrome associates Gene HPRT1True
179185Creutzfeldt-Jakob disease is not associated with Gene PRNPFalse
180186BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY is not associated with Gene CYP4V2False
181187Disease ontology identifier for juvenile myoclonic epilepsy is DOID:4890True
182188XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E associates Gene DDB2True
183190Disease ontology identifier for ornithine carbamoyltransferase deficiency is DOID:9271True
184191Saethre-Chotzen Syndrome is not associated with Gene TWIST1False
185192prothrombin complex concentrates treats hemophilia bTrue
186193Disease ontology identifier for ethylmalonic encephalopathy is DOID:0060640True
187194Alexander disease is a leukodystrophyTrue
188195Variant rs2476601 associates Rheumatoid ArthritisTrue
189196Carney Complex is not associated with Gene PRKAR1AFalse
190197Disease ontology identifier for Werner syndrome is DOID:0050466False
191198very long chain acyl-CoA dehydrogenase deficiency is not a disorder of fatty acid oxidation and ketogenesisFalse
192199DOYNE HONEYCOMB RETINAL DYSTROPHY associates Gene EFEMP1True
193200Central Diabetes Insipidus associates Gene AVPTrue
194201Disease ontology identifier for popliteal pterygium syndrome is DOID:0050756False
195202Fragile X Syndrome associates Gene FMR1True
196203Loeys-Dietz Syndrome associates Gene TGFBR2True
197204XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C associates Gene XPCTrue
198205CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C associates Gene SH3TC2True
199206hereditary hemorrhagic telangiectasia is a autosomal dominant diseaseTrue
200207Sandhoff disease is a eye degenerative disorderTrue
201208Disease ontology identifier for aniridia is DOID:12704False
202209Congenital Generalized Lipodystrophy Type 2 associates Gene BSCL2True
203210Noonan Syndrome associates Gene PTPN11True
204211Juvenile Spinal Muscular Atrophy associates Gene SMN1True
205212CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J associates Gene FIG4True
206213Alkaptonuria associates Gene HGDTrue
207214Cystinuria is not associated with Gene SLC7A9False
208215Popliteal pterygium syndrome is not associated with Gene IRF6False
209216Aspartylglucosaminuria is not associated with Gene AGAFalse
210217Nijmegen Breakage Syndrome is not associated with Gene NBNFalse
211218Mowat-Wilson syndrome is not associated with Gene ZEB2False
212219Disease ontology identifier for fragile X syndrome is DOID:14261True
213220Sarcoma associates Gene TP53True
214221Alstrom syndrome is a ciliopathyTrue
215222Gray Platelet Syndrome is not associated with Gene NBEAL2False
216223Ethylmalonic encephalopathy is not associated with Gene ETHE1False
217224L-2-HYDROXYGLUTARIC ACIDURIA associates Gene L2HGDHTrue
218225Disease ontology identifier for campomelic dysplasia is DOID:0050463True
219226choroideremia is not a X-linked diseaseFalse
220227Coffin-Siris syndrome is a syndromic diseaseTrue
221228Nance-Horan syndrome associates Gene NHSTrue
222229Disease ontology identifier for cystinuria is DOID:9266True
223230Disease ontology identifier for gray platelet syndrome is DOID:0111044True
224231Maple Syrup Urine Disease associates Gene DBTTrue
225232Spinocerebellar Ataxia Type 1 is not associated with Gene ATXN1False
226233Holt-Oram syndrome is a autosomal dominant diseaseTrue
227234agalsidase alfa treats fabry diseaseTrue
228235Disease ontology identifier for pseudopseudohypoparathyroidism is DOID:4183True
229236agalsidase beta treats fabry diseaseTrue
230237Unverricht-Lundborg Syndrome is not associated with Gene CSTBFalse
231238L-2-hydroxyglutaric aciduria is not a 2-hydroxyglutaric aciduriaFalse
232239Refsum Disease associates Gene PHYHTrue
233240Achondroplasia is not associated with Gene FGFR3False
234241pseudoachondroplasia is a osteochondrodysplasiaTrue
235243LATE-ONSET RETINAL DEGENERATION (disorder) associates Gene C1QTNF5True
236244immunosuppressive agents treats crohn's diseaseTrue
237245nail-patella syndrome is a autosomal dominant diseaseTrue
238246Mulibrey Nanism is not associated with Gene TRIM37False
239247Xeroderma pigmentosum, group G is not associated with Gene ERCC5False
240248Disease ontology identifier for Lafora disease is DOID:3534True
241249Brachydactyly type C is not associated with Gene GDF5False
242250Cystinuria is not associated with Gene SLC3A1False
243251Obesity is not associated with Gene MC4RFalse
244252Kleefstra syndrome 1 is a Kleefstra syndromeTrue
245253everolimus treats tuberous sclerosisTrue
246254Autosomal Recessive Polycystic Kidney Disease associates Gene PKHD1True
247255amiloride treats cystic fibrosisTrue
248256Liver carcinoma associates Gene TP53True
249257Adrenoleukodystrophy associates Gene ABCD1True
250258Tuberous Sclerosis associates Gene TSC2True
251259Myoclonic dystonia is not associated with Gene SGCEFalse
252260Long QT Syndrome 1 associates Gene KCNQ1True
253261Smith-Magenis syndrome associates Gene RAI1True
254262Disease ontology identifier for autosomal dominant hypophosphatemic rickets is DOID:0050948True
255263nitisinone treats alkaptonuriaTrue
256264immune checkpoint inhibitor treats melanomaTrue
257265Li-Fraumeni Syndrome is not associated with Gene TP53False
258266argininosuccinic aciduria is a amino acid metabolism diseaseTrue
259267Hyperargininemia is not associated with Gene ARG1False
260268Fabry Disease associates Gene GLATrue
261269Disease ontology identifier for beta-mannosidosis is DOID:0111136False
262270Disease ontology identifier for spinocerebellar ataxia type 1 is DOID:0050954True
263271Waardenburg Syndrome Type 1 associates Gene PAX3True
264272Osteosarcoma is not associated with Gene TP53False
265273Mucopolysaccharidosis II associates Gene IDSTrue
266274Xeroderma pigmentosum, group F associates Gene ERCC4True
267275Pierson syndrome is not a autosomal recessive diseaseFalse
268276Nijmegen breakage syndrome is a autosomal recessive diseaseTrue
269277Ellis-Van Creveld Syndrome associates Gene EVC2True
270278X-linked agammaglobulinemia associates Gene BTKTrue
271279azithromycin treats cystic fibrosisTrue
272280liraglutide treats obesityTrue
273281Chediak-Higashi Syndrome associates Gene LYSTTrue
274282FANCONI ANEMIA, COMPLEMENTATION GROUP D2 is not associated with Gene FANCD2False
275283Wiskott-Aldrich Syndrome is not associated with Gene WASFalse
276284Pseudoxanthoma Elasticum associates Gene ABCC6True
277285Disease ontology identifier for Omenn syndrome is DOID:3633False
278286Hajdu-Cheney Syndrome associates Gene NOTCH2True
279287Disease ontology identifier for adrenoleukodystrophy is DOID:0060844False
280288antibiotics treats cystic fibrosisTrue
281289Mosaic variegated aneuploidy syndrome 1 associates Gene BUB1BTrue
282290Noonan Syndrome associates Gene KRASTrue
283291Coffin-Lowry syndrome associates Gene RPS6KA3True
284292Laron Syndrome associates Gene GHRTrue
285293Leigh Disease associates Gene SURF1True
286294DiGeorge Syndrome is not associated with Gene TBX1False
287295Disease ontology identifier for Nance-Horan syndrome is DOID:0050771False
288296TIBIAL MUSCULAR DYSTROPHY, TARDIVE associates Gene TTNTrue
289297protein-tyrosine kinase inhibitor treats sarcomaTrue
290298Lafora Disease associates Gene EPM2ATrue
291299Pseudoachondroplasia associates Gene COMPTrue
292300Charcot-Marie-Tooth disease, Type 4B1 associates Gene MTMR2True
293302Hartnup disease is a inborn disorder of amino acid transportTrue
294303Farber Lipogranulomatosis is not associated with Gene ASAH1False
295304Disease ontology identifier for Lesch-Nyhan syndrome is DOID:1919True
296305Polycythemia Vera is not associated with Gene JAK2False
297306hyperkalemic periodic paralysis is not a familial periodic paralysisFalse
298307Coffin-Lowry syndrome is not a X-linked syndromic intellectual disabilityFalse
299308macrolide antibiotics treats cystic fibrosisTrue
300309Pierson syndrome is not associated with Gene LAMB2False
301310CAMPOMELIC DYSPLASIA associates Gene SOX9True
302311Fatal Familial Insomnia is not associated with Gene PRNPFalse
303312Disease ontology identifier for sitosterolemia is DOID:0090019True
304313Tay-Sachs Disease associates Gene HEXATrue
305314beta-Mannosidosis is not associated with Gene MANBAFalse
306315Noonan Syndrome associates Gene SOS1True
307316Obesity is not associated with Gene PPARGFalse
308317Congenital amegakaryocytic thrombocytopenia is not associated with Gene MPLFalse
309318Leigh Disease associates Gene NDUFS4True
310319Sandhoff Disease is not associated with Gene HEXBFalse
311320Disease ontology identifier for Doyne honeycomb retinal dystrophy is DOID:0081055False
312321Juvenile polyposis syndrome associates Gene BMPR1ATrue