Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25782
Gene Symbol: RAB3GAP2
RAB3GAP2
0.110 GeneticVariation disease BEFREE We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that results in abnormal splicing in a family with congenital cataracts, hypogonadism, and mild mental retardation (Martsolf syndrome). 16532399 2006
Entrez Id: 25782
Gene Symbol: RAB3GAP2
RAB3GAP2
0.110 Biomarker disease HPO