Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
PREMATURE OVARIAN FAILURE 7 (disorder) 		0.700 GeneticVariation disease UNIPROT Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. 11038323 2000
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
PREMATURE OVARIAN FAILURE 7 (disorder) 		0.700 GeneticVariation disease UNIPROT Mutations in NR5A1 associated with ovarian insufficiency. 19246354 2009
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
PREMATURE OVARIAN FAILURE 7 (disorder) 		0.700 GeneticVariation disease UNIPROT Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort. 26523528 2016
CUI: C3151406
Disease: SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 8 		0.700 GeneticVariation disease UNIPROT Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. 20887963 2010
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 GeneticVariation disease UNIPROT Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. 17200175 2007
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 GeneticVariation disease UNIPROT Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. 17694559 2008
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 GeneticVariation disease UNIPROT New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. 28459839 2017
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 GeneticVariation disease UNIPROT A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. 27378692 2016
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 GeneticVariation disease UNIPROT Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. 11932325 2002
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 GeneticVariation disease UNIPROT NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. 27490115 2017
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 GeneticVariation disease CLINVAR SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management. 28032338 2017
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 GeneticVariation disease UNIPROT The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency. 24405868 2014
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 GeneticVariation disease UNIPROT A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. 10369247 1999
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		0.510 GeneticVariation disease BEFREE Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred. 22907560 2012
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype 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: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype BEFREE Mutations in the NR5A1 gene (SF-1) were previously described in disorders of sexual development and adrenal insufficiency. 22100173 2012
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype BEFREE Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1. 15579739 2004
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype 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: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype 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: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype BEFREE Not long ago, a mutation (G35E) in the human SF-1 gene was identified as the cause of sex reversal and adrenal failure in a phenotypically female but genotypically XY individual. 12907682 2003
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype BEFREE Several mutations in NR5A1 have been reported to cause gonadal dysgenesis with adrenal insufficiency in individuals with 46,XY karyotype. 29265478 2018
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype BEFREE A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency. 15070943 2004
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype 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: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype BEFREE Recently, heterozygous mutations in the NR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure. 20453312 2010
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype 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