Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.160 CausalMutation CLINVAR Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. 29178648

2017
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.160 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.160 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016