Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.310 GermlineCausalMutation ORPHANET A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family. 23447127

2013
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.310 GermlineCausalMutation ORPHANET Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. 19306328

2009