Disease: Congenital absence of both testes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1261504
Disease: Congenital absence of both testes
Congenital absence of both testes 		0.040 GeneticVariation disease BEFREE Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia. 28459839 2017
CUI: C1261504
Disease: Congenital absence of both testes
Congenital absence of both testes 		0.040 GeneticVariation disease BEFREE Mutations in the NR5A1 gene, which encodes the steroidogenic factor 1 (SF1), are responsible for different phenotypes of disorders of sex development (DSD), such as bilateral anorchia and hypospadias. 27463801 2016
CUI: C1261504
Disease: Congenital absence of both testes
Congenital absence of both testes 		0.040 GeneticVariation disease BEFREE Mutations in NR5A1 were first described in patients with primary adrenal insufficiency and 46,XY disorders of sexual development and later also in men with hypospadias, bilateral anorchia and micropenis and women with primary ovarian insufficiency. 23299922 2013
CUI: C1261504
Disease: Congenital absence of both testes
Congenital absence of both testes 		0.040 GeneticVariation disease BEFREE Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study. 17940071 2007