Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.110 AlteredExpression BEFREE A syndrome has been observed in a kindred with deficient activity of hypoxanthine-guanine phosphoribosyltransferase in which affected hemizygotes have had mild mental retardation, a spastic gait, pyramidal tract signs, shortness of stature, proximally placed thumbs and clinodactyly of the fifth fingers. 3575027

1987
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.110 Biomarker HPO