×
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