Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal
0.010 GeneticVariation disease BEFREE One novel heterozygotic SF-1 gene mutation was identified in a patient with perineal hypospadias and cryptorchidism, the patient's mother also had the same mutation.No mutation was found in the AR gene. 23729601 2013