rs864309688, GJA8

N. diseases: 3
Disease: Cataract, Zonular Pulverulent 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cataract, Zonular Pulverulent 1
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
Cataract, Zonular Pulverulent 1
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
0.700 GeneticVariation CLINVAR Structure-function correlation analysis of connexin50 missense mutations causing congenital cataract: electrostatic potential alteration could determine intracellular trafficking fate of mutants. 25003127 2014
Cataract, Zonular Pulverulent 1
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
0.700 GeneticVariation CLINVAR Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50. 21228318 2011
Cataract, Zonular Pulverulent 1
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
0.700 GeneticVariation CLINVAR A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin. 18334946 2008