rs886041412, EPHA2

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CATARACT, POSTERIOR POLAR, 1
CUI: C1861825
Disease: CATARACT, POSTERIOR POLAR, 1
0.700 CausalMutation CLINVAR Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia. 24014202 2013
CATARACT, POSTERIOR POLAR, 1
CUI: C1861825
Disease: CATARACT, POSTERIOR POLAR, 1
0.700 CausalMutation CLINVAR Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. 19306328 2009