Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 GeneticVariation disease BEFREE In rare cases, sequence variants of the NR5A1/SF-1 gene may result in POI, or in various disorders of gonadal development (DGD) or adrenal insufficiency. 31831369 2019
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 GeneticVariation disease BEFREE Several mutations in NR5A1 have been reported to cause gonadal dysgenesis with adrenal insufficiency in individuals with 46,XY karyotype. 29265478 2018
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 GeneticVariation disease BEFREE NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. 28032338 2017
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 GeneticVariation disease BEFREE In this report, we describe a novel heterozygous c.814A > C (p. T272P) NR5A1 mutation in a patient with 46, XY DSD without adrenal insufficiency. 27135758 2017
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 GeneticVariation disease BEFREE Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency. 26139438 2015
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 GeneticVariation disease BEFREE This is the first study searching for NR5A1 mutations in oriental patients from the Middle East and Arab region with XY DSD and no adrenal insufficiency, revealing a frequency similar to that in European patients (6.5-15%). 24591553 2014
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 GeneticVariation disease BEFREE Mutations in the NR5A1 gene (SF-1) were previously described in disorders of sexual development and adrenal insufficiency. 22100173 2012
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 GeneticVariation disease BEFREE NR5A1 mutations have been identified in patients with various forms of 46,XY disorders of sex development (DSD), including complete gonadal dysgenesis with or without adrenal insufficiency, mild testicular dysgenesis with ambiguous external genitalia or female external genitalia with clitoromegaly, and penoscrotal hypospadias. 21654157 2011
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 GeneticVariation disease BEFREE More recently, heterozygous NR5A1 mutations have been identified in a substantial proportion of patients with 46,XY disorders of sex development (46,XY DSD) without adrenal insufficiency. 20595937 2010
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 Biomarker disease BEFREE The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency. 19439508 2009
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 GeneticVariation disease BEFREE Initially, mutations of SF-1/Ad4BP gene (NR5A1) in humans were identified in two 46, XY female patients with adrenal insufficiency and gonadal dysgenesis. 19318730 2009
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 GeneticVariation disease BEFREE A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency. 17656604 2007
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 GeneticVariation disease BEFREE Previous studies have identified three human subjects with mutations in SF-1 causing adrenocortical insufficiency with varying degrees of gonadal dysfunction. 15070943 2004
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 GeneticVariation disease BEFREE Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1. 15579739 2004
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 Biomarker disease BEFREE These SF-1 knockout mice lacked adrenal glands and gonads, causing adrenocortical insufficiency and sex reversal of their internal and external genitalia. 11165004 2001
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 GeneticVariation disease BEFREE We describe a phenotypically and genotypically normal girl, with signs and symptoms of adrenal insufficiency and no apparent defect in ovarian maturation, bearing a heterozygote G-->T transversion in exon 4 of the NR5A1 gene that leads to the missense R255L in the SF-1 protein. 11038323 2000
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 Biomarker disease GENOMICS_ENGLAND