Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.700 GeneticVariation disease UNIPROT New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. 28459839 2017
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.700 GeneticVariation disease UNIPROT NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. 27490115 2017
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.700 GeneticVariation disease CLINVAR SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management. 28032338 2017
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		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
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.700 CausalMutation disease CLINVAR Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis. 27169744 2016
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.700 Biomarker disease GENOMICS_ENGLAND DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. 26303087 2015
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.700 CausalMutation disease CLINVAR Exome sequencing for the diagnosis of 46,XY disorders of sex development. 25383892 2015
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		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
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.700 CausalMutation disease CLINVAR Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis. 25122490 2014
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.700 CausalMutation disease CLINVAR 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
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure. 22951804 2012
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.700 CausalMutation disease CLINVAR The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians. 23154282 2012
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.700 CausalMutation disease CLINVAR Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. 22028768 2011
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		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
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		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
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		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
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		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
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.700 Biomarker disease CTD_human
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3973
Gene Symbol: LHCGR
LHCGR 		0.300 Biomarker disease CTD_human Steroidogenesis in the fetal testis and its susceptibility to disruption by exogenous compounds. 19887492 2009
Entrez Id: 1583
Gene Symbol: CYP11A1
CYP11A1 		0.300 Biomarker disease CTD_human Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency. 11502818 2001
Entrez Id: 3973
Gene Symbol: LHCGR
LHCGR 		0.300 Biomarker disease CTD_human Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. 7719343 1995