Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1528
Gene Symbol: CYB5A
CYB5A
0.010 GeneticVariation group BEFREE We have identified the first human CYB5A missense mutation as the cause of isolated 17,20 lyase deficiency in three individuals with 46,XY DSD. 22170710 2012