Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.110 GeneticVariation phenotype BEFREE Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure. 20453312 2010
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.110 Biomarker phenotype HPO