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diff --git a/data/dataset_for_entity_retrieval_accuracy_analysis.csv b/data/dataset_for_entity_retrieval_accuracy_analysis.csv new file mode 100644 index 0000000..7dce659 --- /dev/null +++ b/data/dataset_for_entity_retrieval_accuracy_analysis.csv @@ -0,0 +1,323 @@ +text,node_hits +LIRAGLUTIDE TREATS OBESITY,obesity +disease ontology identifier for central diabetes insipidus is doid:350,central diabetes insipidus +"Xeroderma pigmentosum, group G is not associated with Gene ERCC5",xeroderma pigmentosum +cherubism is not a autosomal dominant disease,cherubism +MASA SYNDROME (DISORDER) IS NOT ASSOCIATED WITH GENE L1CAM,MASA syndrome +CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 2 ASSOCIATES GENE BSCL2,congenital generalized lipodystrophy type 2 +PRASTERONE TREATS OBESITY,obesity +CONGENITAL CONTRACTURAL ARACHNODACTYLY ASSOCIATES GENE FBN2,congenital contractural arachnodactyly +PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 IS NOT ASSOCIATED WITH GENE PNKD,paroxysmal nonkinesigenic dyskinesia 1 +Acute intermittent porphyria is not associated with Gene HMBS,acute intermittent porphyria +Disease ontology identifier for gray platelet syndrome is DOID:0111044,gray platelet syndrome +Hyperargininemia is not associated with Gene ARG1,hyperargininemia +DISEASE ONTOLOGY IDENTIFIER FOR MARFAN SYNDROME IS DOID:0060055,Marfan syndrome +FACTOR IX TREATS HEMOPHILIA B,hemophilia B +DISEASE ONTOLOGY IDENTIFIER FOR MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 IS DOID:0080141,mosaic variegated aneuploidy syndrome 1 +noonan syndrome associates gene kras,Noonan syndrome +L-2-HYDROXYGLUTARIC ACIDURIA associates Gene L2HGDH,L-2-hydroxyglutaric aciduria +AZITHROMYCIN TREATS CYSTIC FIBROSIS,cystic fibrosis +disease ontology identifier for smith-magenis syndrome is doid:12271,Smith-Magenis syndrome +COFFIN-SIRIS SYNDROME IS A SYNDROMIC DISEASE,Coffin-Siris syndrome +antithrombin iii deficiency is not associated with gene serpinc1,antithrombin III deficiency +DEHYDROEPIANDROSTERONE TREATS OBESITY,obesity +MULIBREY NANISM IS A SYNDROMIC DISEASE,mulibrey nanism +cleidocranial dysplasia associates gene runx2,cleidocranial dysplasia +ASPARTYLGLUCOSAMINURIA IS NOT ASSOCIATED WITH GENE AGA,aspartylglucosaminuria +Brachydactyly type C is not associated with Gene GDF5,brachydactyly type C +Wolman Disease associates Gene LIPA,Wolman disease +adenine phosphoribosyltransferase deficiency associates gene aprt,adenine phosphoribosyltransferase deficiency +Neurofibromatosis 2 is not associated with Gene NF2,neurofibromatosis 2 +HARTNUP DISEASE IS A INBORN DISORDER OF AMINO ACID TRANSPORT,Hartnup disease +campomelic dysplasia associates gene sox9,campomelic dysplasia +DOYNE HONEYCOMB RETINAL DYSTROPHY associates Gene EFEMP1,Doyne honeycomb retinal dystrophy +enhanced S-cone syndrome is not a vitreoretinal degeneration,enhanced S-cone syndrome +melanoma associates Gene BRAF,melanoma +congenital contractural arachnodactyly is not a congenital nervous system disorder,congenital contractural arachnodactyly +CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA IS NOT ASSOCIATED WITH GENE MPL,congenital amegakaryocytic thrombocytopenia +LEIGH DISEASE ASSOCIATES GENE SURF1,Leigh disease +cystic fibrosis is a respiratory system disorder,cystic fibrosis +Neurofibromatosis 1 associates Gene NF1,neurofibromatosis 1 +"Robinow syndrome, autosomal recessive associates Gene ROR2",Robinow syndrome +polycythemia vera is not associated with gene jak2,polycythemia vera +PSEUDOPSEUDOHYPOPARATHYROIDISM ASSOCIATES GENE GNAS,pseudopseudohypoparathyroidism +Rothmund-Thomson syndrome is not associated with Gene RECQL4,Rothmund-Thomson syndrome +Alveolar rhabdomyosarcoma associates Gene PAX3,alveolar rhabdomyosarcoma +ellis-van creveld syndrome associates gene evc2,Ellis-Van Creveld syndrome +Coffin-Lowry syndrome is not a X-linked syndromic intellectual disability,Coffin-Lowry syndrome +CHERUBISM ASSOCIATES GENE SH3BP2,cherubism +agalsidase alfa treats fabry disease,Fabry disease +disease ontology identifier for lesch-nyhan syndrome is doid:1919,Lesch-Nyhan syndrome +disease ontology identifier for autosomal dominant hypophosphatemic rickets is doid:0050948,autosomal dominant hypophosphatemic rickets +nail-patella syndrome associates gene lmx1b,nail-patella syndrome +mulibrey nanism is not associated with gene trim37,mulibrey nanism +MYOCLONIC DYSTONIA IS NOT ASSOCIATED WITH GENE SGCE,myoclonic dystonia +pseudoachondroplasia associates gene comp,pseudoachondroplasia +EVEROLIMUS TREATS TUBEROUS SCLEROSIS,tuberous sclerosis +DiGeorge syndrome is a congenital T-cell immunodeficiency,DiGeorge syndrome +INSULIN TREATS OBESITY,obesity +disease ontology identifier for mastocytosis is doid:0060768,mastocytosis +bevacizumab treats hereditary hemorrhagic telangiectasia,hereditary hemorrhagic telangiectasia +Disease ontology identifier for Farber lipogranulomatosis is DOID:0050464,Farber lipogranulomatosis +DENYS-DRASH SYNDROME IS NOT ASSOCIATED WITH GENE WT1,Denys-Drash syndrome +DISEASE ONTOLOGY IDENTIFIER FOR NORRIE DISEASE IS DOID:0060599,Norrie disease +"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E ASSOCIATES GENE DDB2",xeroderma pigmentosum +Disease ontology identifier for popliteal pterygium syndrome is DOID:0050756,popliteal pterygium syndrome +Ornithine carbamoyltransferase deficiency associates Gene OTC,ornithine carbamoyltransferase deficiency +Wiskott-Aldrich Syndrome is not associated with Gene WAS,Wiskott-Aldrich syndrome +Tangier Disease is not associated with Gene ABCA1,Tangier disease +disease ontology identifier for omenn syndrome is doid:3633,Omenn syndrome +LONG QT SYNDROME 1 ASSOCIATES GENE KCNQ1,long QT syndrome 1 +allan-herndon-dudley syndrome (ahds) is not associated with gene slc16a2,Allan-Herndon-Dudley syndrome +ETHYLMALONIC ENCEPHALOPATHY IS NOT ASSOCIATED WITH GENE ETHE1,ethylmalonic encephalopathy +Hemophilia B is not associated with Gene F9,hemophilia B +Mowat-Wilson syndrome is not associated with Gene ZEB2,Mowat-Wilson syndrome +HARTNUP DISEASE IS NOT ASSOCIATED WITH GENE SLC6A19,Hartnup disease +Disease ontology identifier for campomelic dysplasia is DOID:0050463,campomelic dysplasia +"HEMOCHROMATOSIS, TYPE 4 ASSOCIATES GENE SLC40A1",hemochromatosis +disease ontology identifier for rothmund-thomson syndrome is doid:2732,Rothmund-Thomson syndrome +Autosomal Recessive Polycystic Kidney Disease associates Gene PKHD1,autosomal recessive polycystic kidney disease +adenine phosphoribosyltransferase deficiency is a inborn disorder of amino acid metabolism,adenine phosphoribosyltransferase deficiency +Angelman syndrome is a syndromic disease,Angelman syndrome +Tay-Sachs disease is not a eye degenerative disorder,Tay-Sachs disease +spinocerebellar ataxia type 5 associates gene sptbn2,spinocerebellar ataxia type 5 +rapp-hodgkin syndrome is a autosomal dominant disease,Rapp-Hodgkin syndrome +sandhoff disease is not associated with gene hexb,Sandhoff disease +johanson-blizzard syndrome associates gene ubr1,Johanson-Blizzard syndrome +maple syrup urine disease associates gene dbt,maple syrup urine disease +laron syndrome is a autosomal recessive disease,Laron syndrome +popliteal pterygium syndrome is not associated with gene irf6,popliteal pterygium syndrome +PITT-HOPKINS SYNDROME is not associated with Gene TCF4,Pitt-Hopkins syndrome +Alkaptonuria associates Gene HGD,alkaptonuria +Hereditary hemorrhagic telangiectasia associates Gene ENG,hereditary hemorrhagic telangiectasia +MASTOCYTOSIS IS NOT ASSOCIATED WITH GENE KIT,mastocytosis +macrolide antibiotics treats cystic fibrosis,cystic fibrosis +Very long chain acyl-CoA dehydrogenase deficiency is not associated with Gene ACADVL,very long chain acyl-CoA dehydrogenase deficiency +KUFOR-RAKEB SYNDROME associates Gene ATP13A2,Kufor-Rakeb syndrome +protein-tyrosine kinase inhibitor treats sarcoma,sarcoma +autosomal dominant hypophosphatemic rickets associates gene fgf23,autosomal dominant hypophosphatemic rickets +WAARDENBURG SYNDROME TYPE 1 ASSOCIATES GENE PAX3,Waardenburg syndrome type 1 +Cystic Fibrosis associates Gene CFTR,cystic fibrosis +WHIM syndrome is not associated with Gene CXCR4,WHIM syndrome +tuberous sclerosis is a autosomal dominant disease,tuberous sclerosis +CHOROIDEREMIA IS NOT ASSOCIATED WITH GENE CHM,choroideremia +smith-lemli-opitz syndrome is not associated with gene dhcr7,Smith-Lemli-Opitz syndrome +LATE-ONSET RETINAL DEGENERATION (disorder) associates Gene C1QTNF5,late-onset retinal degeneration +ibuprofen treats cystic fibrosis,cystic fibrosis +JUVENILE POLYPOSIS SYNDROME ASSOCIATES GENE SMAD4,juvenile polyposis syndrome +alpha-galactosidase treats fabry disease,Fabry disease +pembrolizumab treats melanoma,melanoma +PIEBALDISM ASSOCIATES GENE KIT,piebaldism +"Charcot-Marie-Tooth Disease, Type Ib associates Gene MPZ",Charcot-Marie-Tooth disease +DiGeorge Syndrome is not associated with Gene TBX1,DiGeorge syndrome +Fibrodysplasia Ossificans Progressiva associates Gene ACVR1,fibrodysplasia ossificans progressiva +Omenn Syndrome associates Gene RAG2,Omenn syndrome +Juvenile Spinal Muscular Atrophy associates Gene SMN1,juvenile spinal muscular atrophy +antibiotics treats cystic fibrosis,cystic fibrosis +HEREDITARY HEMORRHAGIC TELANGIECTASIA IS A AUTOSOMAL DOMINANT DISEASE,hereditary hemorrhagic telangiectasia +Fabry Disease associates Gene GLA,Fabry disease +GYRATE ATROPHY ASSOCIATES GENE OAT,gyrate atrophy +"Bernard-Soulier syndrome is a inherited bleeding disorder, platelet-type",Bernard-Soulier syndrome +VITELLIFORM MACULAR DYSTROPHY ASSOCIATES GENE BEST1,vitelliform macular dystrophy +Gray Platelet Syndrome is not associated with Gene NBEAL2,gray platelet syndrome +Coffin-Siris syndrome associates Gene ARID1B,Coffin-Siris syndrome +burkitt lymphoma is a neoplasm of mature b-cells,Burkitt lymphoma +multiple endocrine neoplasia type 2b associates gene ret,multiple endocrine neoplasia type 2B +anesthetics treats pheochromocytoma,pheochromocytoma +PSEUDOACHONDROPLASIA IS A OSTEOCHONDRODYSPLASIA,pseudoachondroplasia +Pierson syndrome is not a autosomal recessive disease,Pierson syndrome +costello syndrome (disorder) is not associated with gene hras,Costello syndrome +familial mediterranean fever associates gene mefv,familial Mediterranean fever +Jervell-Lange Nielsen Syndrome is not associated with Gene KCNQ1,Jervell-Lange Nielsen syndrome +argininosuccinic aciduria associates gene asl,argininosuccinic aciduria +nance-horan syndrome associates gene nhs,Nance-Horan syndrome +li-fraumeni syndrome is a autosomal dominant disease,Li-Fraumeni syndrome +CANAVAN DISEASE IS A INBORN AMINOACYLASE DEFICIENCY,Canavan disease +TETRALOGY OF FALLOT IS NOT A HEREDITARY DISEASE,tetralogy of Fallot +Disease ontology identifier for fibrodysplasia ossificans progressiva is DOID:13374,fibrodysplasia ossificans progressiva +penicillamine treats cystinuria,cystinuria +LONG QT SYNDROME 3 associates Gene SCN5A,long QT syndrome 3 +"xeroderma pigmentosum, complementation group c associates gene xpc",xeroderma pigmentosum +Laron Syndrome associates Gene GHR,Laron syndrome +DISEASE ONTOLOGY IDENTIFIER FOR PHEOCHROMOCYTOMA IS DOID:14692,pheochromocytoma +CYSTINURIA IS NOT ASSOCIATED WITH GENE SLC3A1,cystinuria +loeys-dietz syndrome associates gene tgfbr1,Loeys-Dietz syndrome +ANTIBIOTICS TREATS OBESITY,obesity +Disease ontology identifier for ethylmalonic encephalopathy is DOID:0060640,ethylmalonic encephalopathy +Johanson-Blizzard syndrome is a congenital nervous system disorder,Johanson-Blizzard syndrome +peutz-jeghers syndrome associates gene stk11,Peutz-Jeghers syndrome +Sandhoff disease is a eye degenerative disorder,Sandhoff disease +Coffin-Lowry syndrome associates Gene RPS6KA3,Coffin-Lowry syndrome +Leigh Disease associates Gene NDUFS4,Leigh disease +choroideremia is not a X-linked disease,choroideremia +Bernard-Soulier Syndrome associates Gene GP1BB,Bernard-Soulier syndrome +Lafora Disease is not associated with Gene NHLRC1,Lafora disease +IMMUNOSUPPRESSIVE AGENTS TREATS CROHN'S DISEASE,Crohn's disease +LAFORA DISEASE ASSOCIATES GENE EPM2A,Lafora disease +Pheochromocytoma is not associated with Gene RET,pheochromocytoma +Brugada Syndrome (disorder) associates Gene SCN5A,Brugada syndrome +Greig cephalopolysyndactyly syndrome associates Gene GLI3,Greig cephalopolysyndactyly syndrome +vaccines treats melanoma,melanoma +Mucopolysaccharidosis II associates Gene IDS,mucopolysaccharidosis II +RAPP-HODGKIN SYNDROME associates Gene TP63,Rapp-Hodgkin syndrome +Spinocerebellar Ataxia Type 6 (disorder) associates Gene CACNA1A,spinocerebellar ataxia type 6 +Saethre-Chotzen Syndrome is not associated with Gene TWIST1,Saethre-Chotzen syndrome +Loeys-Dietz Syndrome associates Gene TGFBR2,Loeys-Dietz syndrome +Ulnar-mammary syndrome is not associated with Gene TBX3,ulnar-mammary syndrome +Marfan Syndrome associates Gene FBN1,Marfan syndrome +noonan syndrome associates gene raf1,Noonan syndrome +norrie disease associates gene ndp,Norrie disease +biotinidase deficiency is not a multiple carboxylase deficiency,biotinidase deficiency +burkitt lymphoma is not associated with gene myc,Burkitt lymphoma +hyperkalemic periodic paralysis is not a familial periodic paralysis,hyperkalemic periodic paralysis +TUBEROUS SCLEROSIS ASSOCIATES GENE TSC2,tuberous sclerosis +melphalan treats melanoma,melanoma +Disease ontology identifier for beta-mannosidosis is DOID:0111136,beta-mannosidosis +pitt-hopkins syndrome is a syndromic disease,Pitt-Hopkins syndrome +Fatal Familial Insomnia is not associated with Gene PRNP,fatal familial insomnia +FABRY DISEASE IS NOT A DEVELOPMENTAL ANOMALY OF METABOLIC ORIGIN,Fabry disease +fatal familial insomnia is not a insomnia,fatal familial insomnia +MUENKE SYNDROME ASSOCIATES GENE FGFR3,Muenke Syndrome +FARBER LIPOGRANULOMATOSIS IS NOT ASSOCIATED WITH GENE ASAH1,Farber lipogranulomatosis +greig cephalopolysyndactyly syndrome is not a syndromic disease,Greig cephalopolysyndactyly syndrome +Kleefstra syndrome 1 is a Kleefstra syndrome,Kleefstra syndrome 1 +mowat-wilson syndrome is a syndromic intellectual disability,Mowat-Wilson syndrome +METRONIDAZOLE TREATS CROHN'S DISEASE,Crohn's disease +Cystinuria is not associated with Gene SLC7A9,cystinuria +Disease ontology identifier for Smith-Lemli-Opitz syndrome is DOID:0080026,Smith-Lemli-Opitz syndrome +alpha-d-galactosidase enzyme treats fabry disease,Fabry disease +Tay-Sachs Disease associates Gene HEXA,Tay-Sachs disease +BIOTINIDASE DEFICIENCY IS NOT ASSOCIATED WITH GENE BTD,biotinidase deficiency +DISEASE ONTOLOGY IDENTIFIER FOR ATAXIA TELANGIECTASIA IS DOID:0060010,ataxia telangiectasia +Disease ontology identifier for Timothy syndrome is DOID:0060173,Timothy syndrome +multiple endocrine neoplasia type 2b is a autosomal dominant disease,multiple endocrine neoplasia type 2B +WOLCOTT-RALLISON SYNDROME IS A SYNDROMIC DISEASE,Wolcott-Rallison syndrome +Disease ontology identifier for cystinuria is DOID:9266,cystinuria +POLYCYSTIC KIDNEY DISEASE 1 ASSOCIATES GENE PKD1,polycystic kidney disease 1 +Refsum Disease associates Gene PHYH,Refsum disease +Nijmegen breakage syndrome is a autosomal recessive disease,Nijmegen breakage syndrome +Pierson syndrome is not associated with Gene LAMB2,Pierson syndrome +holt-oram syndrome is a autosomal dominant disease,Holt-Oram syndrome +Fragile X Syndrome associates Gene FMR1,fragile X syndrome +vitelliform macular dystrophy is not a macular degeneration,vitelliform macular dystrophy +Pfeiffer Syndrome associates Gene FGFR2,Pfeiffer syndrome +Alexander Disease associates Gene GFAP,Alexander disease +"basal ganglia disease, biotin-responsive associates gene slc19a3",basal ganglia disease +Progeria associates Gene LMNA,progeria +infantile hypophosphatasia associates gene alpl,infantile hypophosphatasia +"xeroderma pigmentosum, group b associates gene ercc3",xeroderma pigmentosum +Microvillus inclusion disease is not associated with Gene MYO5B,microvillus inclusion disease +Smith-Magenis syndrome associates Gene RAI1,Smith-Magenis syndrome +LIVER CARCINOMA IS NOT ASSOCIATED WITH GENE MET,liver carcinoma +"fanconi anemia, complementation group d2 is not associated with gene fancd2",Fanconi anemia +tetralogy of fallot associates gene zfpm2,tetralogy of Fallot +ARGIPRESSIN TREATS CENTRAL DIABETES INSIPIDUS,central diabetes insipidus +noonan syndrome associates gene sos1,Noonan syndrome +Denys-Drash syndrome is a autosomal dominant disease,Denys-Drash syndrome +familial Mediterranean fever is not a primary immunodeficiency due to a genetic defect in innate immunity,familial Mediterranean fever +Disease ontology identifier for ornithine carbamoyltransferase deficiency is DOID:9271,ornithine carbamoyltransferase deficiency +Achondroplasia is not a osteochondrodysplasia,achondroplasia +unverricht-lundborg syndrome is not associated with gene cstb,Unverricht-Lundborg syndrome +alpha-Mannosidosis associates Gene MAN2B1,alpha-mannosidosis +6-MERCAPTOPURINE TREATS CROHN'S DISEASE,Crohn's disease +enhanced s-cone syndrome is not associated with gene nr2e3,enhanced S-cone syndrome +ADRENAL CORTEX HORMONES TREATS CROHN'S DISEASE,Crohn's disease +BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY is not associated with Gene CYP4V2,Bietti crystalline corneoretinal dystrophy +AGALSIDASE BETA TREATS FABRY DISEASE,Fabry disease +HEMOPHILIA B IS A HEMORRHAGIC DISEASE,hemophilia B +Li-Fraumeni Syndrome is not associated with Gene TP53,Li-Fraumeni syndrome +"xeroderma pigmentosum, group f associates gene ercc4",xeroderma pigmentosum +WOLMAN DISEASE IS A LYSOSOMAL ACID LIPASE DEFICIENCY,Wolman disease +alveolar rhabdomyosarcoma is not a rhabdomyosarcoma,alveolar rhabdomyosarcoma +Aniridia is not associated with Gene PAX6,aniridia +argininosuccinic aciduria is a amino acid metabolism disease,argininosuccinic aciduria +"charcot-marie-tooth disease, type 4c associates gene sh3tc2",Charcot-Marie-Tooth disease +Werner Syndrome associates Gene WRN,Werner syndrome +AMILORIDE TREATS CYSTIC FIBROSIS,cystic fibrosis +nail-patella syndrome is a autosomal dominant disease,nail-patella syndrome +"TIBIAL MUSCULAR DYSTROPHY, TARDIVE associates Gene TTN",tibial muscular dystrophy +Chediak-Higashi Syndrome associates Gene LYST,Chediak-Higashi syndrome +juvenile myoclonic epilepsy is not associated with gene efhc1,juvenile myoclonic epilepsy +UNVERRICHT-LUNDBORG SYNDROME IS A MOVEMENT DISORDER,Unverricht-Lundborg syndrome +immune checkpoint inhibitors treats melanoma,melanoma +hyperkalemic periodic paralysis is not associated with gene scn4a,hyperkalemic periodic paralysis +Disease ontology identifier for Doyne honeycomb retinal dystrophy is DOID:0081055,Doyne honeycomb retinal dystrophy +"Charcot-Marie-Tooth disease, Type 4B1 associates Gene MTMR2",Charcot-Marie-Tooth disease +disease ontology identifier for fragile x syndrome is doid:14261,fragile X syndrome +Nijmegen Breakage Syndrome is not associated with Gene NBN,Nijmegen breakage syndrome +MERCAPTOPURINE TREATS CROHN'S DISEASE,Crohn's disease +Alexander disease is a leukodystrophy,Alexander disease +disease ontology identifier for werner syndrome is doid:0050466,Werner syndrome +spinocerebellar ataxia type 1 is not associated with gene atxn1,spinocerebellar ataxia type 1 +ACRODERMATITIS ENTEROPATHICA IS NOT A INBORN METAL METABOLISM DISORDER,acrodermatitis enteropathica +Adrenoleukodystrophy associates Gene ABCD1,adrenoleukodystrophy +"Xeroderma pigmentosum, group A associates Gene XPA",xeroderma pigmentosum +Wolcott-Rallison syndrome associates Gene EIF2AK3,Wolcott-Rallison syndrome +Mucopolysaccharidosis VI associates Gene ARSB,mucopolysaccharidosis VI +very long chain acyl-coa dehydrogenase deficiency is not a disorder of fatty acid oxidation and ketogenesis,very long chain acyl-CoA dehydrogenase deficiency +OBESITY IS NOT ASSOCIATED WITH GENE PPARG,obesity +angelman syndrome is not associated with gene ube3a,Angelman syndrome +pelizaeus-merzbacher disease associates gene plp1,Pelizaeus-Merzbacher disease +Ellis-van Creveld syndrome is not a heart disorder,Ellis-Van Creveld syndrome +kleefstra syndrome 1 is not associated with gene ehmt1,Kleefstra syndrome 1 +COLCHICINE TREATS FAMILIAL MEDITERRANEAN FEVER,familial Mediterranean fever +"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J associates Gene FIG4",Charcot-Marie-Tooth disease +sitosterolemia is not associated with gene abcg8,sitosterolemia +Holt-Oram syndrome is not associated with Gene TBX5,Holt-Oram syndrome +OBESITY IS NOT ASSOCIATED WITH GENE MC4R,obesity +Disease ontology identifier for Lafora disease is DOID:3534,Lafora disease +Achondroplasia is not associated with Gene FGFR3,achondroplasia +BETA-MANNOSIDOSIS IS NOT ASSOCIATED WITH GENE MANBA,beta-mannosidosis +BORJESON-FORSSMAN-LEHMANN SYNDROME IS NOT A X-LINKED SYNDROMIC INTELLECTUAL DISABILITY,Borjeson-Forssman-Lehmann syndrome +Disease ontology identifier for spinocerebellar ataxia type 1 is DOID:0050954,spinocerebellar ataxia type 1 +Disease ontology identifier for Tangier disease is DOID:1388,Tangier disease +sarcoma is a cancer,sarcoma +DISEASE ONTOLOGY IDENTIFIER FOR JUVENILE MYOCLONIC EPILEPSY IS DOID:4890,juvenile myoclonic epilepsy +Disease ontology identifier for aniridia is DOID:12704,aniridia +CHARGE Syndrome is not associated with Gene CHD7,CHARGE syndrome +Creutzfeldt-Jakob disease is not associated with Gene PRNP,Creutzfeldt-Jakob disease +central diabetes insipidus associates gene avp,central diabetes insipidus +Chediak-Higashi syndrome is a congenital nervous system disorder,Chediak-Higashi syndrome +DISEASE ONTOLOGY IDENTIFIER FOR PELIZAEUS-MERZBACHER DISEASE IS DOID:5688,Pelizaeus-Merzbacher disease +Borjeson-Forssman-Lehmann syndrome is not associated with Gene PHF6,Borjeson-Forssman-Lehmann syndrome +Juvenile polyposis syndrome associates Gene BMPR1A,juvenile polyposis syndrome +enoxaparin treats obesity,obesity +Ataxia Telangiectasia associates Gene ATM,ataxia telangiectasia +Mosaic variegated aneuploidy syndrome 1 associates Gene BUB1B,mosaic variegated aneuploidy syndrome 1 +bernard-soulier syndrome associates gene gp1ba,Bernard-Soulier syndrome +PSEUDOXANTHOMA ELASTICUM ASSOCIATES GENE ABCC6,pseudoxanthoma elasticum +ALSTROM SYNDROME ASSOCIATES GENE ALMS1,Alstrom syndrome +osteosarcoma is a sarcoma,osteosarcoma +"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D ASSOCIATES GENE ERCC2",xeroderma pigmentosum +DISEASE ONTOLOGY IDENTIFIER FOR PSEUDOPSEUDOHYPOPARATHYROIDISM IS DOID:4183,pseudopseudohypoparathyroidism +Hajdu-Cheney Syndrome associates Gene NOTCH2,Hajdu-Cheney syndrome +X-linked agammaglobulinemia associates Gene BTK,X-linked agammaglobulinemia +prothrombin complex concentrates treats hemophilia b,hemophilia B +DISEASE ONTOLOGY IDENTIFIER FOR ADRENOLEUKODYSTROPHY IS DOID:0060844,adrenoleukodystrophy +nitisinone treats alkaptonuria,alkaptonuria +l-2-hydroxyglutaric aciduria is not a 2-hydroxyglutaric aciduria,L-2-hydroxyglutaric aciduria +alkaptonuria is not a disorder of tyrosine metabolism,alkaptonuria +Sarcoma associates Gene TP53,sarcoma +ACRODERMATITIS ENTEROPATHICA ASSOCIATES GENE SLC39A4,acrodermatitis enteropathica +Disease ontology identifier for spinocerebellar ataxia type 5 is DOID:0050882,spinocerebellar ataxia type 5 +canavan disease associates gene aspa,Canavan disease +disease ontology identifier for sitosterolemia is doid:0090019,sitosterolemia +Liver carcinoma associates Gene TP53,liver carcinoma +Variant rs2476601 associates Rheumatoid Arthritis,rheumatoid arthritis +Osteosarcoma is not associated with Gene TP53,osteosarcoma +EPISODIC ATAXIA TYPE 2 (DISORDER) IS NOT ASSOCIATED WITH GENE CACNA1A,episodic ataxia type 2 +lesch-nyhan syndrome associates gene hprt1,Lesch-Nyhan syndrome +DISEASE ONTOLOGY IDENTIFIER FOR WISKOTT-ALDRICH SYNDROME IS DOID:9169,Wiskott-Aldrich syndrome +Alstrom syndrome is a ciliopathy,Alstrom syndrome +Carney Complex is not associated with Gene PRKAR1A,Carney complex +DISEASE ONTOLOGY IDENTIFIER FOR CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 2 IS DOID:10588,congenital generalized lipodystrophy type 2 +brachydactyly type c is a brachydactyly,brachydactyly type C +noonan syndrome is a multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome,Noonan syndrome +Disease ontology identifier for Nance-Horan syndrome is DOID:0050771,Nance-Horan syndrome +Carney complex is a autosomal dominant disease,Carney complex +immune checkpoint inhibitor treats melanoma,melanoma +antineoplastic agents treats osteosarcoma,osteosarcoma +timothy syndrome associates gene cacna1c,Timothy syndrome +piebaldism is a autosomal dominant disease,piebaldism +Disease ontology identifier for Loeys-Dietz syndrome is DOID:0060745,Loeys-Dietz syndrome +NOONAN SYNDROME ASSOCIATES GENE PTPN11,Noonan syndrome |