Source: HPO

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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 0 0 2014 2015