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: 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: C0156312
Disease: Atrophy of testis
Atrophy of testis 		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: 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: 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: C0151818
Disease: Opisthotonus
Opisthotonus 		phenotype 0.100 None 0 0
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: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		phenotype 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0042963
Disease: Vomiting
Vomiting 		phenotype 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0036690
Disease: Septicemia
Septicemia 		disease 0.010 None < 0.001 1 0 2014 2014
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0243026
Disease: Sepsis
Sepsis 		disease 0.010 None < 0.001 1 0 2014 2014
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype 0.020 None 0.500 2 0 2009 2017
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group 0.100 None 0.917 12 0 1989 2010
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		disease 1.000 definitive 0.985 133 28 1971 2020
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		disease 0.800 strong 1.000 30 19 1983 2017
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		disease 0.500 None 1.000 22 0 1981 2018
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group 0.100 None 1.000 10 0 1993 2019
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group 0.100 None 1.000 10 0 1993 2019
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: 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: 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: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease 0.050 None 1.000 5 0 1990 1995