SRD5A1, steroid 5 alpha-reductase 1, 6715

N. diseases: 48; N. variants: 7
Disease: Penile hypospadias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.020 GeneticVariation disease BEFREE Mutant SRD5A1 isoenzyme does not seem to play a crucial role in the development of hypospadias. 14739525 2004
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.020 Biomarker disease BEFREE We speculate that haploinsufficiency of SRD5A1 and TPPP may be responsible for hypospadias and cerebellar hypoplasia, respectively, in this case. 23500598 2013