mirror of
https://github.com/BaranziniLab/KG_RAG.git
synced 2024-06-08 14:12:54 +03:00
19 KiB
19 KiB
| 1 | text | label | |
|---|---|---|---|
| 2 | 0 | enhanced S-cone syndrome is not a vitreoretinal degeneration | False |
| 3 | 1 | metronidazole treats crohn's disease | True |
| 4 | 2 | KLEEFSTRA SYNDROME 1 is not associated with Gene EHMT1 | False |
| 5 | 3 | Juvenile polyposis syndrome associates Gene SMAD4 | True |
| 6 | 4 | Disease ontology identifier for congenital generalized lipodystrophy type 2 is DOID:10588 | False |
| 7 | 5 | Disease ontology identifier for Marfan syndrome is DOID:0060055 | False |
| 8 | 6 | cystic fibrosis is a respiratory system disorder | True |
| 9 | 7 | alpha-Mannosidosis associates Gene MAN2B1 | True |
| 10 | 8 | Wolcott-Rallison syndrome associates Gene EIF2AK3 | True |
| 11 | 9 | Neurofibromatosis 2 is not associated with Gene NF2 | False |
| 12 | 10 | Angelman syndrome is a syndromic disease | True |
| 13 | 11 | colchicine treats familial mediterranean fever | True |
| 14 | 12 | Marfan Syndrome associates Gene FBN1 | True |
| 15 | 13 | Mowat-Wilson syndrome is a syndromic intellectual disability | True |
| 16 | 14 | mulibrey nanism is a syndromic disease | True |
| 17 | 15 | Disease ontology identifier for pheochromocytoma is DOID:14692 | False |
| 18 | 16 | Tangier Disease is not associated with Gene ABCA1 | False |
| 19 | 17 | Disease ontology identifier for central diabetes insipidus is DOID:350 | False |
| 20 | 18 | Ulnar-mammary syndrome is not associated with Gene TBX3 | False |
| 21 | 19 | bevacizumab treats hereditary hemorrhagic telangiectasia | True |
| 22 | 20 | Liver carcinoma is not associated with Gene MET | False |
| 23 | 21 | Antithrombin III Deficiency is not associated with Gene SERPINC1 | False |
| 24 | 22 | Mastocytosis is not associated with Gene KIT | False |
| 25 | 23 | Disease ontology identifier for Farber lipogranulomatosis is DOID:0050464 | True |
| 26 | 24 | Familial Mediterranean Fever associates Gene MEFV | True |
| 27 | 25 | Disease ontology identifier for Wiskott-Aldrich syndrome is DOID:9169 | True |
| 28 | 26 | Tay-Sachs disease is not a eye degenerative disorder | False |
| 29 | 28 | Juvenile Myoclonic Epilepsy is not associated with Gene EFHC1 | False |
| 30 | 29 | Costello syndrome (disorder) is not associated with Gene HRAS | False |
| 31 | 30 | Very long chain acyl-CoA dehydrogenase deficiency is not associated with Gene ACADVL | False |
| 32 | 31 | Wolman disease is a lysosomal acid lipase deficiency | True |
| 33 | 32 | Fibrodysplasia Ossificans Progressiva associates Gene ACVR1 | True |
| 34 | 33 | Canavan Disease associates Gene ASPA | True |
| 35 | 34 | Chediak-Higashi syndrome is a congenital nervous system disorder | True |
| 36 | 35 | Hereditary hemorrhagic telangiectasia associates Gene ENG | True |
| 37 | 36 | Lafora Disease is not associated with Gene NHLRC1 | False |
| 38 | 37 | Pheochromocytoma is not associated with Gene RET | False |
| 39 | 38 | Xeroderma pigmentosum, group B associates Gene ERCC3 | True |
| 40 | 39 | Acute intermittent porphyria is not associated with Gene HMBS | False |
| 41 | 41 | piebaldism is a autosomal dominant disease | True |
| 42 | 42 | vitelliform macular dystrophy is not a macular degeneration | False |
| 43 | 43 | Spinocerebellar Ataxia Type 5 associates Gene SPTBN2 | True |
| 44 | 44 | Disease ontology identifier for Pelizaeus-Merzbacher disease is DOID:5688 | False |
| 45 | 45 | Robinow syndrome, autosomal recessive associates Gene ROR2 | True |
| 46 | 46 | Disease ontology identifier for Loeys-Dietz syndrome is DOID:0060745 | False |
| 47 | 47 | Cystic Fibrosis associates Gene CFTR | True |
| 48 | 48 | Greig cephalopolysyndactyly syndrome associates Gene GLI3 | True |
| 49 | 49 | alkaptonuria is not a disorder of tyrosine metabolism | False |
| 50 | 50 | Timothy syndrome associates Gene CACNA1C | True |
| 51 | 51 | Unverricht-Lundborg syndrome is a movement disorder | True |
| 52 | 52 | Denys-Drash syndrome is a autosomal dominant disease | True |
| 53 | 53 | factor ix treats hemophilia b | True |
| 54 | 55 | Mucopolysaccharidosis VI associates Gene ARSB | True |
| 55 | 56 | HEMOCHROMATOSIS, TYPE 4 associates Gene SLC40A1 | True |
| 56 | 57 | Charcot-Marie-Tooth Disease, Type Ib associates Gene MPZ | True |
| 57 | 58 | Disease ontology identifier for Timothy syndrome is DOID:0060173 | True |
| 58 | 59 | Denys-Drash Syndrome is not associated with Gene WT1 | False |
| 59 | 60 | Cherubism associates Gene SH3BP2 | True |
| 60 | 61 | PITT-HOPKINS SYNDROME is not associated with Gene TCF4 | False |
| 61 | 62 | Greig cephalopolysyndactyly syndrome is not a syndromic disease | False |
| 62 | 63 | Paroxysmal Nonkinesigenic Dyskinesia 1 is not associated with Gene PNKD | False |
| 63 | 64 | Enhanced S-Cone Syndrome is not associated with Gene NR2E3 | False |
| 64 | 65 | Canavan disease is a inborn aminoacylase deficiency | True |
| 65 | 66 | Episodic ataxia type 2 (disorder) is not associated with Gene CACNA1A | False |
| 66 | 67 | Aniridia is not associated with Gene PAX6 | False |
| 67 | 68 | Congenital contractural arachnodactyly associates Gene FBN2 | True |
| 68 | 69 | Muenke Syndrome associates Gene FGFR3 | True |
| 69 | 70 | Carney complex is a autosomal dominant disease | True |
| 70 | 71 | Borjeson-Forssman-Lehmann syndrome is not a X-linked syndromic intellectual disability | False |
| 71 | 72 | Johanson-Blizzard syndrome associates Gene UBR1 | True |
| 72 | 73 | MASA SYNDROME (disorder) is not associated with Gene L1CAM | False |
| 73 | 74 | Autosomal dominant hypophosphatemic rickets associates Gene FGF23 | True |
| 74 | 75 | Acrodermatitis enteropathica associates Gene SLC39A4 | True |
| 75 | 76 | Rothmund-Thomson syndrome is not associated with Gene RECQL4 | False |
| 76 | 77 | Cleidocranial Dysplasia associates Gene RUNX2 | True |
| 77 | 78 | LONG QT SYNDROME 3 associates Gene SCN5A | True |
| 78 | 79 | Infantile hypophosphatasia associates Gene ALPL | True |
| 79 | 80 | acrodermatitis enteropathica is not a inborn metal metabolism disorder | False |
| 80 | 81 | Ataxia Telangiectasia associates Gene ATM | True |
| 81 | 82 | alpha-galactosidase treats fabry disease | True |
| 82 | 83 | Laron syndrome is a autosomal recessive disease | True |
| 83 | 84 | Piebaldism associates Gene KIT | True |
| 84 | 85 | Pfeiffer Syndrome associates Gene FGFR2 | True |
| 85 | 86 | Bernard-Soulier syndrome is a inherited bleeding disorder, platelet-type | True |
| 86 | 87 | Burkitt Lymphoma is not associated with Gene MYC | False |
| 87 | 88 | Ornithine carbamoyltransferase deficiency associates Gene OTC | True |
| 88 | 89 | Nail-Patella Syndrome associates Gene LMX1B | True |
| 89 | 90 | Tetralogy of Fallot associates Gene ZFPM2 | True |
| 90 | 91 | Hartnup Disease is not associated with Gene SLC6A19 | False |
| 91 | 92 | Disease ontology identifier for fibrodysplasia ossificans progressiva is DOID:13374 | True |
| 92 | 93 | familial Mediterranean fever is not a primary immunodeficiency due to a genetic defect in innate immunity | False |
| 93 | 94 | Hemophilia B is not associated with Gene F9 | False |
| 94 | 95 | Rapp-Hodgkin syndrome is a autosomal dominant disease | True |
| 95 | 96 | Borjeson-Forssman-Lehmann syndrome is not associated with Gene PHF6 | False |
| 96 | 97 | Multiple Endocrine Neoplasia Type 2b associates Gene RET | True |
| 97 | 98 | Choroideremia is not associated with Gene CHM | False |
| 98 | 99 | Wolman Disease associates Gene LIPA | True |
| 99 | 100 | Adenine phosphoribosyltransferase deficiency associates Gene APRT | True |
| 100 | 101 | Holt-Oram syndrome is not associated with Gene TBX5 | False |
| 101 | 102 | tetralogy of fallot is not a hereditary disease | False |
| 102 | 103 | Disease ontology identifier for mosaic variegated aneuploidy syndrome 1 is DOID:0080141 | True |
| 103 | 104 | hemophilia B is a hemorrhagic disease | True |
| 104 | 105 | fatal familial insomnia is not a insomnia | False |
| 105 | 106 | Disease ontology identifier for mastocytosis is DOID:0060768 | False |
| 106 | 107 | osteosarcoma is a sarcoma | True |
| 107 | 108 | immune checkpoint inhibitors treats melanoma | True |
| 108 | 109 | Johanson-Blizzard syndrome is a congenital nervous system disorder | True |
| 109 | 110 | Achondroplasia is not a osteochondrodysplasia | False |
| 110 | 111 | KUFOR-RAKEB SYNDROME associates Gene ATP13A2 | True |
| 111 | 112 | Loeys-Dietz Syndrome associates Gene TGFBR1 | True |
| 112 | 113 | Disease ontology identifier for Rothmund-Thomson syndrome is DOID:2732 | True |
| 113 | 114 | Angelman Syndrome is not associated with Gene UBE3A | False |
| 114 | 115 | biotinidase deficiency is not a multiple carboxylase deficiency | False |
| 115 | 116 | 6-mercaptopurine treats crohn's disease | True |
| 116 | 117 | Wolcott-Rallison syndrome is a syndromic disease | True |
| 117 | 118 | Disease ontology identifier for spinocerebellar ataxia type 5 is DOID:0050882 | False |
| 118 | 119 | Pseudopseudohypoparathyroidism associates Gene GNAS | True |
| 119 | 120 | alveolar rhabdomyosarcoma is not a rhabdomyosarcoma | False |
| 120 | 121 | Disease ontology identifier for Norrie disease is DOID:0060599 | False |
| 121 | 123 | argipressin treats central diabetes insipidus | True |
| 122 | 124 | Omenn Syndrome associates Gene RAG2 | True |
| 123 | 125 | adenine phosphoribosyltransferase deficiency is a inborn disorder of amino acid metabolism | True |
| 124 | 126 | Progeria associates Gene LMNA | True |
| 125 | 127 | mercaptopurine treats crohn's disease | True |
| 126 | 128 | Peutz-Jeghers Syndrome associates Gene STK11 | True |
| 127 | 130 | Noonan syndrome is a multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome | True |
| 128 | 131 | RAPP-HODGKIN SYNDROME associates Gene TP63 | True |
| 129 | 132 | Bernard-Soulier Syndrome associates Gene GP1BA | True |
| 130 | 133 | Spinocerebellar Ataxia Type 6 (disorder) associates Gene CACNA1A | True |
| 131 | 134 | Werner Syndrome associates Gene WRN | True |
| 132 | 135 | sarcoma is a cancer | True |
| 133 | 136 | brachydactyly type C is a brachydactyly | True |
| 134 | 137 | Alveolar rhabdomyosarcoma associates Gene PAX3 | True |
| 135 | 138 | CHARGE Syndrome is not associated with Gene CHD7 | False |
| 136 | 139 | Ellis-van Creveld syndrome is not a heart disorder | False |
| 137 | 140 | Pelizaeus-Merzbacher Disease associates Gene PLP1 | True |
| 138 | 141 | Microvillus inclusion disease is not associated with Gene MYO5B | False |
| 139 | 142 | DiGeorge syndrome is a congenital T-cell immunodeficiency | True |
| 140 | 143 | melanoma associates Gene BRAF | True |
| 141 | 144 | Basal ganglia disease, biotin-responsive associates Gene SLC19A3 | True |
| 142 | 145 | Coffin-Siris syndrome associates Gene ARID1B | True |
| 143 | 146 | Sitosterolemia is not associated with Gene ABCG8 | False |
| 144 | 147 | Alexander Disease associates Gene GFAP | True |
| 145 | 148 | pembrolizumab treats melanoma | True |
| 146 | 149 | congenital contractural arachnodactyly is not a congenital nervous system disorder | False |
| 147 | 150 | cherubism is not a autosomal dominant disease | False |
| 148 | 151 | Norrie disease associates Gene NDP | True |
| 149 | 152 | Hyperkalemic periodic paralysis is not associated with Gene SCN4A | False |
| 150 | 153 | Disease ontology identifier for ataxia telangiectasia is DOID:0060010 | False |
| 151 | 154 | Xeroderma pigmentosum, group A associates Gene XPA | True |
| 152 | 156 | antineoplastic agents treats osteosarcoma | True |
| 153 | 157 | Jervell-Lange Nielsen Syndrome is not associated with Gene KCNQ1 | False |
| 154 | 159 | Pitt-Hopkins syndrome is a syndromic disease | True |
| 155 | 160 | POLYCYSTIC KIDNEY DISEASE 1 associates Gene PKD1 | True |
| 156 | 161 | Disease ontology identifier for Tangier disease is DOID:1388 | True |
| 157 | 162 | Disease ontology identifier for Smith-Lemli-Opitz syndrome is DOID:0080026 | False |
| 158 | 163 | alpha-d-galactosidase enzyme treats fabry disease | True |
| 159 | 164 | Burkitt lymphoma is a neoplasm of mature B-cells | True |
| 160 | 165 | Vitelliform Macular Dystrophy associates Gene BEST1 | True |
| 161 | 166 | Disease ontology identifier for Smith-Magenis syndrome is DOID:12271 | False |
| 162 | 167 | Noonan Syndrome associates Gene RAF1 | True |
| 163 | 168 | Bernard-Soulier Syndrome associates Gene GP1BB | True |
| 164 | 169 | Neurofibromatosis 1 associates Gene NF1 | True |
| 165 | 170 | Brugada Syndrome (disorder) associates Gene SCN5A | True |
| 166 | 171 | Smith-Lemli-Opitz Syndrome is not associated with Gene DHCR7 | False |
| 167 | 172 | Biotinidase Deficiency is not associated with Gene BTD | False |
| 168 | 173 | Allan-Herndon-Dudley syndrome (AHDS) is not associated with Gene SLC16A2 | False |
| 169 | 175 | Li-Fraumeni syndrome is a autosomal dominant disease | True |
| 170 | 176 | WHIM syndrome is not associated with Gene CXCR4 | False |
| 171 | 177 | multiple endocrine neoplasia type 2B is a autosomal dominant disease | True |
| 172 | 178 | Alstrom Syndrome associates Gene ALMS1 | True |
| 173 | 179 | Gyrate Atrophy associates Gene OAT | True |
| 174 | 180 | tuberous sclerosis is a autosomal dominant disease | True |
| 175 | 181 | Fabry disease is not a developmental anomaly of metabolic origin | False |
| 176 | 182 | Xeroderma Pigmentosum, Complementation Group D associates Gene ERCC2 | True |
| 177 | 183 | Argininosuccinic Aciduria associates Gene ASL | True |
| 178 | 184 | Lesch-Nyhan Syndrome associates Gene HPRT1 | True |
| 179 | 185 | Creutzfeldt-Jakob disease is not associated with Gene PRNP | False |
| 180 | 186 | BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY is not associated with Gene CYP4V2 | False |
| 181 | 187 | Disease ontology identifier for juvenile myoclonic epilepsy is DOID:4890 | True |
| 182 | 188 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E associates Gene DDB2 | True |
| 183 | 190 | Disease ontology identifier for ornithine carbamoyltransferase deficiency is DOID:9271 | True |
| 184 | 191 | Saethre-Chotzen Syndrome is not associated with Gene TWIST1 | False |
| 185 | 192 | prothrombin complex concentrates treats hemophilia b | True |
| 186 | 193 | Disease ontology identifier for ethylmalonic encephalopathy is DOID:0060640 | True |
| 187 | 194 | Alexander disease is a leukodystrophy | True |
| 188 | 195 | Variant rs2476601 associates Rheumatoid Arthritis | True |
| 189 | 196 | Carney Complex is not associated with Gene PRKAR1A | False |
| 190 | 197 | Disease ontology identifier for Werner syndrome is DOID:0050466 | False |
| 191 | 198 | very long chain acyl-CoA dehydrogenase deficiency is not a disorder of fatty acid oxidation and ketogenesis | False |
| 192 | 199 | DOYNE HONEYCOMB RETINAL DYSTROPHY associates Gene EFEMP1 | True |
| 193 | 200 | Central Diabetes Insipidus associates Gene AVP | True |
| 194 | 201 | Disease ontology identifier for popliteal pterygium syndrome is DOID:0050756 | False |
| 195 | 202 | Fragile X Syndrome associates Gene FMR1 | True |
| 196 | 203 | Loeys-Dietz Syndrome associates Gene TGFBR2 | True |
| 197 | 204 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C associates Gene XPC | True |
| 198 | 205 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C associates Gene SH3TC2 | True |
| 199 | 206 | hereditary hemorrhagic telangiectasia is a autosomal dominant disease | True |
| 200 | 207 | Sandhoff disease is a eye degenerative disorder | True |
| 201 | 208 | Disease ontology identifier for aniridia is DOID:12704 | False |
| 202 | 209 | Congenital Generalized Lipodystrophy Type 2 associates Gene BSCL2 | True |
| 203 | 210 | Noonan Syndrome associates Gene PTPN11 | True |
| 204 | 211 | Juvenile Spinal Muscular Atrophy associates Gene SMN1 | True |
| 205 | 212 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J associates Gene FIG4 | True |
| 206 | 213 | Alkaptonuria associates Gene HGD | True |
| 207 | 214 | Cystinuria is not associated with Gene SLC7A9 | False |
| 208 | 215 | Popliteal pterygium syndrome is not associated with Gene IRF6 | False |
| 209 | 216 | Aspartylglucosaminuria is not associated with Gene AGA | False |
| 210 | 217 | Nijmegen Breakage Syndrome is not associated with Gene NBN | False |
| 211 | 218 | Mowat-Wilson syndrome is not associated with Gene ZEB2 | False |
| 212 | 219 | Disease ontology identifier for fragile X syndrome is DOID:14261 | True |
| 213 | 220 | Sarcoma associates Gene TP53 | True |
| 214 | 221 | Alstrom syndrome is a ciliopathy | True |
| 215 | 222 | Gray Platelet Syndrome is not associated with Gene NBEAL2 | False |
| 216 | 223 | Ethylmalonic encephalopathy is not associated with Gene ETHE1 | False |
| 217 | 224 | L-2-HYDROXYGLUTARIC ACIDURIA associates Gene L2HGDH | True |
| 218 | 225 | Disease ontology identifier for campomelic dysplasia is DOID:0050463 | True |
| 219 | 226 | choroideremia is not a X-linked disease | False |
| 220 | 227 | Coffin-Siris syndrome is a syndromic disease | True |
| 221 | 228 | Nance-Horan syndrome associates Gene NHS | True |
| 222 | 229 | Disease ontology identifier for cystinuria is DOID:9266 | True |
| 223 | 230 | Disease ontology identifier for gray platelet syndrome is DOID:0111044 | True |
| 224 | 231 | Maple Syrup Urine Disease associates Gene DBT | True |
| 225 | 232 | Spinocerebellar Ataxia Type 1 is not associated with Gene ATXN1 | False |
| 226 | 233 | Holt-Oram syndrome is a autosomal dominant disease | True |
| 227 | 234 | agalsidase alfa treats fabry disease | True |
| 228 | 235 | Disease ontology identifier for pseudopseudohypoparathyroidism is DOID:4183 | True |
| 229 | 236 | agalsidase beta treats fabry disease | True |
| 230 | 237 | Unverricht-Lundborg Syndrome is not associated with Gene CSTB | False |
| 231 | 238 | L-2-hydroxyglutaric aciduria is not a 2-hydroxyglutaric aciduria | False |
| 232 | 239 | Refsum Disease associates Gene PHYH | True |
| 233 | 240 | Achondroplasia is not associated with Gene FGFR3 | False |
| 234 | 241 | pseudoachondroplasia is a osteochondrodysplasia | True |
| 235 | 243 | LATE-ONSET RETINAL DEGENERATION (disorder) associates Gene C1QTNF5 | True |
| 236 | 244 | immunosuppressive agents treats crohn's disease | True |
| 237 | 245 | nail-patella syndrome is a autosomal dominant disease | True |
| 238 | 246 | Mulibrey Nanism is not associated with Gene TRIM37 | False |
| 239 | 247 | Xeroderma pigmentosum, group G is not associated with Gene ERCC5 | False |
| 240 | 248 | Disease ontology identifier for Lafora disease is DOID:3534 | True |
| 241 | 249 | Brachydactyly type C is not associated with Gene GDF5 | False |
| 242 | 250 | Cystinuria is not associated with Gene SLC3A1 | False |
| 243 | 251 | Obesity is not associated with Gene MC4R | False |
| 244 | 252 | Kleefstra syndrome 1 is a Kleefstra syndrome | True |
| 245 | 253 | everolimus treats tuberous sclerosis | True |
| 246 | 254 | Autosomal Recessive Polycystic Kidney Disease associates Gene PKHD1 | True |
| 247 | 255 | amiloride treats cystic fibrosis | True |
| 248 | 256 | Liver carcinoma associates Gene TP53 | True |
| 249 | 257 | Adrenoleukodystrophy associates Gene ABCD1 | True |
| 250 | 258 | Tuberous Sclerosis associates Gene TSC2 | True |
| 251 | 259 | Myoclonic dystonia is not associated with Gene SGCE | False |
| 252 | 260 | Long QT Syndrome 1 associates Gene KCNQ1 | True |
| 253 | 261 | Smith-Magenis syndrome associates Gene RAI1 | True |
| 254 | 262 | Disease ontology identifier for autosomal dominant hypophosphatemic rickets is DOID:0050948 | True |
| 255 | 263 | nitisinone treats alkaptonuria | True |
| 256 | 264 | immune checkpoint inhibitor treats melanoma | True |
| 257 | 265 | Li-Fraumeni Syndrome is not associated with Gene TP53 | False |
| 258 | 266 | argininosuccinic aciduria is a amino acid metabolism disease | True |
| 259 | 267 | Hyperargininemia is not associated with Gene ARG1 | False |
| 260 | 268 | Fabry Disease associates Gene GLA | True |
| 261 | 269 | Disease ontology identifier for beta-mannosidosis is DOID:0111136 | False |
| 262 | 270 | Disease ontology identifier for spinocerebellar ataxia type 1 is DOID:0050954 | True |
| 263 | 271 | Waardenburg Syndrome Type 1 associates Gene PAX3 | True |
| 264 | 272 | Osteosarcoma is not associated with Gene TP53 | False |
| 265 | 273 | Mucopolysaccharidosis II associates Gene IDS | True |
| 266 | 274 | Xeroderma pigmentosum, group F associates Gene ERCC4 | True |
| 267 | 275 | Pierson syndrome is not a autosomal recessive disease | False |
| 268 | 276 | Nijmegen breakage syndrome is a autosomal recessive disease | True |
| 269 | 277 | Ellis-Van Creveld Syndrome associates Gene EVC2 | True |
| 270 | 278 | X-linked agammaglobulinemia associates Gene BTK | True |
| 271 | 279 | azithromycin treats cystic fibrosis | True |
| 272 | 280 | liraglutide treats obesity | True |
| 273 | 281 | Chediak-Higashi Syndrome associates Gene LYST | True |
| 274 | 282 | FANCONI ANEMIA, COMPLEMENTATION GROUP D2 is not associated with Gene FANCD2 | False |
| 275 | 283 | Wiskott-Aldrich Syndrome is not associated with Gene WAS | False |
| 276 | 284 | Pseudoxanthoma Elasticum associates Gene ABCC6 | True |
| 277 | 285 | Disease ontology identifier for Omenn syndrome is DOID:3633 | False |
| 278 | 286 | Hajdu-Cheney Syndrome associates Gene NOTCH2 | True |
| 279 | 287 | Disease ontology identifier for adrenoleukodystrophy is DOID:0060844 | False |
| 280 | 288 | antibiotics treats cystic fibrosis | True |
| 281 | 289 | Mosaic variegated aneuploidy syndrome 1 associates Gene BUB1B | True |
| 282 | 290 | Noonan Syndrome associates Gene KRAS | True |
| 283 | 291 | Coffin-Lowry syndrome associates Gene RPS6KA3 | True |
| 284 | 292 | Laron Syndrome associates Gene GHR | True |
| 285 | 293 | Leigh Disease associates Gene SURF1 | True |
| 286 | 294 | DiGeorge Syndrome is not associated with Gene TBX1 | False |
| 287 | 295 | Disease ontology identifier for Nance-Horan syndrome is DOID:0050771 | False |
| 288 | 296 | TIBIAL MUSCULAR DYSTROPHY, TARDIVE associates Gene TTN | True |
| 289 | 297 | protein-tyrosine kinase inhibitor treats sarcoma | True |
| 290 | 298 | Lafora Disease associates Gene EPM2A | True |
| 291 | 299 | Pseudoachondroplasia associates Gene COMP | True |
| 292 | 300 | Charcot-Marie-Tooth disease, Type 4B1 associates Gene MTMR2 | True |
| 293 | 302 | Hartnup disease is a inborn disorder of amino acid transport | True |
| 294 | 303 | Farber Lipogranulomatosis is not associated with Gene ASAH1 | False |
| 295 | 304 | Disease ontology identifier for Lesch-Nyhan syndrome is DOID:1919 | True |
| 296 | 305 | Polycythemia Vera is not associated with Gene JAK2 | False |
| 297 | 306 | hyperkalemic periodic paralysis is not a familial periodic paralysis | False |
| 298 | 307 | Coffin-Lowry syndrome is not a X-linked syndromic intellectual disability | False |
| 299 | 308 | macrolide antibiotics treats cystic fibrosis | True |
| 300 | 309 | Pierson syndrome is not associated with Gene LAMB2 | False |
| 301 | 310 | CAMPOMELIC DYSPLASIA associates Gene SOX9 | True |
| 302 | 311 | Fatal Familial Insomnia is not associated with Gene PRNP | False |
| 303 | 312 | Disease ontology identifier for sitosterolemia is DOID:0090019 | True |
| 304 | 313 | Tay-Sachs Disease associates Gene HEXA | True |
| 305 | 314 | beta-Mannosidosis is not associated with Gene MANBA | False |
| 306 | 315 | Noonan Syndrome associates Gene SOS1 | True |
| 307 | 316 | Obesity is not associated with Gene PPARG | False |
| 308 | 317 | Congenital amegakaryocytic thrombocytopenia is not associated with Gene MPL | False |
| 309 | 318 | Leigh Disease associates Gene NDUFS4 | True |
| 310 | 319 | Sandhoff Disease is not associated with Gene HEXB | False |
| 311 | 320 | Disease ontology identifier for Doyne honeycomb retinal dystrophy is DOID:0081055 | False |
| 312 | 321 | Juvenile polyposis syndrome associates Gene BMPR1A | True |