46,XY Sex Reversal 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.
|
28459839 |
2017 |
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 |
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 |
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 |
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 |
46,XY Sex Reversal 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.
|
27169744 |
2016 |
PREMATURE OVARIAN FAILURE 7 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
|
26303087 |
2015 |
SPERMATOGENIC FAILURE 8
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
|
26303087 |
2015 |
46,XY Sex Reversal 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
|
26303087 |
2015 |
46,XY Sex Reversal 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
|
25383892 |
2015 |
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 |
46,XY Sex Reversal 3
|
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 |
PREMATURE OVARIAN FAILURE 7 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure.
|
22951804 |
2012 |
SPERMATOGENIC FAILURE 8
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure.
|
22951804 |
2012 |
46,XY Sex Reversal 3
|
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 |
46,XY Sex Reversal 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure.
|
22951804 |
2012 |
46,XY Sex Reversal 3
|
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 |
46,XY Sex Reversal 3
|
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 |
SPERMATOGENIC FAILURE 8
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
|
20887963 |
2010 |
PREMATURE OVARIAN FAILURE 7 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in NR5A1 associated with ovarian insufficiency.
|
19246354 |
2009 |
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 |
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 |
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 |
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 |
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 |