EPHA2, EPH receptor A2, 1969

N. diseases: 187; N. variants: 10
Disease: Bilateral cataracts (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.050 GeneticVariation disease BEFREE Due to this complex expression pattern and the promiscuous interactions between Eph receptors and ephrin ligands, as well as their complex bidirectional signaling pathways, cataracts in ephrin-A5(-/-) or EphA2(-/-) lenses may arise from loss of function or abnormal signaling mechanisms. 28648759 2017
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.050 GeneticVariation disease BEFREE Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia. 24014202 2013
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.050 GeneticVariation disease BEFREE Our results in the Indian population agree with previous studies of the association of EPHA2 variants with cortical cataracts. 22412971 2012
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.050 GeneticVariation disease BEFREE In recent studies, several mutations in the cytoplasmic sterile-α-motif (SAM) domain of human EPHA2 on chromosome 1p36 have been associated with hereditary cataracts in several families. 22570727 2012
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.050 Biomarker disease BEFREE The EPHA2 gene is associated with cataracts linked to chromosome 1p. 19005574 2008