Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. | 28459839 | 2017 |
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|
0.800 | GeneticVariation | UNIPROT | NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. | 27490115 | 2017 |
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|
0.800 | GeneticVariation | UNIPROT | A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. | 27378692 | 2016 |
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|
0.800 | GeneticVariation | 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 |
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|
0.800 | GeneticVariation | UNIPROT | Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. | 17694559 | 2008 |
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|
0.800 | GeneticVariation | 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 |
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|
0.800 | GeneticVariation | UNIPROT | Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. | 11932325 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. | 10369247 | 1999 |
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|
A | 0.800 | GeneticVariation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR |