Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4214
Gene Symbol: MAP3K1
MAP3K1
0.320 GeneticVariation disease BEFREE Missense mutations in the gene, MAP3K1, are a common cause of 46,XY gonadal dysgenesis, accounting for 15-20% of cases [Ostrer, 2014, Disorders of sex development (DSDs): an update.J. Clin.Endocrinol.Metab., 99, 1503-1509]. 30608580 2019
Entrez Id: 4214
Gene Symbol: MAP3K1
MAP3K1
0.320 GeneticVariation disease BEFREE This review will critically examine the evidence linking gene mutations, especially MAP3K1, to non-syndromic forms of human 46,XY gonadal dysgenesis or XX testicular/ovotesticular. 26526145 2015
Entrez Id: 4214
Gene Symbol: MAP3K1
MAP3K1
0.320 GermlineCausalMutation disease ORPHANET Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. 21129722 2010