EPHA2, EPH receptor A2, 1969

N. diseases: 187; N. variants: 10
Disease: Nuclear cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.310 GeneticVariation disease BEFREE A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract. 29039721 2018
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.310 GermlineCausalMutation disease ORPHANET Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia. 24014202 2013