Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.020 GeneticVariation disease BEFREE Thirty-five unrelated mothers underwent PGD, and the following hereditary conditions were identified in their families: albinism (10 families); retinitis pigmentosa (7 families); retinoblastoma (4 families); blue cone monochromatism, achromatopsia, and aniridia (2 families each); and Hermansky-Pudlak syndrome, Leber congenital amaurosis, Norrie disease, papillorenal syndrome, primary congenital cataract, congenital glaucoma, Usher syndrome type 1F, and microphthalmia with coloboma (1 family each). 29781739 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.020 GeneticVariation disease BEFREE Of these patients, 21 were diagnosed with albinism and 2 were diagnosed with PAX6 mutations. 24161406 2013