PGK1, phosphoglycerate kinase 1, 5230

N. diseases: 144; N. variants: 122
Disease: Urogenital Abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities 		0.010 GeneticVariation group BEFREE The human phosphoglycerate kinase (PGK1) gene is located within Xq11-Xq13, a region implicated in familial prostate carcinoma, androgen insensitivity, perineal hypospadias, and other genitourinary abnormalities. 11745195 2001