Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0473237
Disease: Frank hematuria
Frank hematuria 		phenotype 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		disease 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0221168
Disease: Podagra
Podagra 		disease 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0018965
Disease: Hematuria
Hematuria 		phenotype 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury 		disease 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		disease 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.090 None 1.000 9 0 2002 2016
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0268104
Disease: Disorder of purine metabolism
Disorder of purine metabolism 		group 0.070 None 1.000 7 0 2014 2017
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0023418
Disease: leukemia
leukemia 		disease 0.050 None 1.000 5 0 1999 2008
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease 0.050 None 1.000 5 0 2001 2012
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		disease 0.050 None 1.000 5 1 1984 2016
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease 0.050 None 1.000 5 0 2001 2012
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease 0.050 None 1.000 5 0 1990 1995
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease 0.050 None 1.000 5 0 2001 2012
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		disease 0.040 None 1.000 4 0 1990 1999
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0861352
Disease: Lobular Neoplasia
Lobular Neoplasia 		disease 0.040 None 1.000 4 1 1990 2001