Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.020 GeneticVariation disease BEFREE This case report supports the critical role of the HGM domain in the SRY gene and the need of a multidisciplinary approach for CGD patients. 26871559 2015
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.020 GeneticVariation disease BEFREE A novel SRY missense mutation c.347T>C (p.Leu116Ser) was identified in two half-sisters and segregates with the CGD phenotype. 21868002 2011