path: root/data/dataset_for_entity_retrieval_accuracy_analysis.csv

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