WT1, WT1 transcription factor, 7490

N. diseases: 446; N. variants: 61
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 		0.040 GeneticVariation disease BEFREE Previous studies reported mutation of the Wilms' tumor 1 (WT1) gene as a cause of hypospadias. 29958641 2018
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.040 Biomarker disease BEFREE There is controversy over whether WT1 defects are also responsible for isolated hypospadias. 29743143 2018
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.040 GeneticVariation disease BEFREE WT1 gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms' tumor, nephropathy, gonadoblastoma, and other defects, e.g., cryptorchidism or hypospadias. p.R462W is a hot spot mutation in exon 9 and is the most common mutation in patients with Denys-Drash syndrome. 29320783 2017
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.040 GeneticVariation disease BEFREE Bilateral Wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene. 10022588 1999