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 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
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