Condition: CATARACT, POSTERIOR POLAR, 1
rs137853199 in
EPHA2 gene and
CATARACT, POSTERIOR POLAR, 1
PMID 19005574 2008 The EPHA2 gene is associated with cataracts linked to chromosome 1p.
PMID 19306328 2009 Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.
PMID 22570727 2012 Human cataract mutations in EPHA2 SAM domain alter receptor stability and function.
PMID 19649315 2009 EPHA2 is associated with age-related cortical cataract in mice and humans.
PMID 24014202 2013 Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.