EPHA2, EPH receptor A2, 1969

N. diseases: 187; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853199
rs137853199
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1861825
Disease:
CATARACT, POSTERIOR POLAR, 1 		0.800 GeneticVariation UNIPROT Human cataract mutations in EPHA2 SAM domain alter receptor stability and function. 22570727 2012
dbSNP: rs137853200
rs137853200
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1861825
Disease:
CATARACT, POSTERIOR POLAR, 1 		0.800 GeneticVariation UNIPROT Human cataract mutations in EPHA2 SAM domain alter receptor stability and function. 22570727 2012
dbSNP: rs137853199
rs137853199
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1861825
Disease:
CATARACT, POSTERIOR POLAR, 1 		0.800 GeneticVariation UNIPROT EPHA2 is associated with age-related cortical cataract in mice and humans. 19649315 2009
dbSNP: rs137853199
rs137853199
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1861825
Disease:
CATARACT, POSTERIOR POLAR, 1 		0.800 GeneticVariation UNIPROT Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. 19306328 2009
dbSNP: rs137853200
rs137853200
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1861825
Disease:
CATARACT, POSTERIOR POLAR, 1 		0.800 GeneticVariation UNIPROT Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. 19306328 2009
dbSNP: rs137853200
rs137853200
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1861825
Disease:
CATARACT, POSTERIOR POLAR, 1 		0.800 GeneticVariation UNIPROT EPHA2 is associated with age-related cortical cataract in mice and humans. 19649315 2009
dbSNP: rs137853199
rs137853199
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1861825
Disease:
CATARACT, POSTERIOR POLAR, 1 		0.800 GeneticVariation UNIPROT The EPHA2 gene is associated with cataracts linked to chromosome 1p. 19005574 2008
dbSNP: rs137853200
rs137853200
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1861825
Disease:
CATARACT, POSTERIOR POLAR, 1 		0.800 GeneticVariation UNIPROT The EPHA2 gene is associated with cataracts linked to chromosome 1p. 19005574 2008
dbSNP: rs137853199
rs137853199
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1861825
Disease:
CATARACT, POSTERIOR POLAR, 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs137853200
rs137853200
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1861825
Disease:
CATARACT, POSTERIOR POLAR, 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs886041412
rs886041412
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1861825
Disease:
CATARACT, POSTERIOR POLAR, 1 		T 0.700 CausalMutation CLINVAR Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia. 24014202 2013
dbSNP: rs34192549
rs34192549
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C0149782
Disease:
Squamous cell carcinoma of lung 		G 0.700 GeneticVariation CLINVAR EphA2 mutation in lung squamous cell carcinoma promotes increased cell survival, cell invasion, focal adhesions, and mammalian target of rapamycin activation. 20360610 2010
dbSNP: rs886041412
rs886041412
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1861825
Disease:
CATARACT, POSTERIOR POLAR, 1 		T 0.700 CausalMutation CLINVAR Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. 19306328 2009
dbSNP: rs116506614
rs116506614
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1861825
Disease:
CATARACT, POSTERIOR POLAR, 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs922655349
rs922655349
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C0278701
Disease:
Gastric Adenocarcinoma 		0.700 GeneticVariation UNIPROT
dbSNP: rs137853200
rs137853200
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1319315
Disease:
Adenocarcinoma of large intestine 		0.010 GeneticVariation BEFREE The effect of five disease-causing mutations, p.P584L (c.1751C>T), p.T940I (c.2819C>T), p.D942fsXC71 (c.2826-9G>A), p.A959T (c.2875G>A), and p.V972GfsX39 (c.2915_2916delTG), on localization of the protein was examined in two in vitro epithelial cell culture systems: Madin-Darby Canine Kidney (MDCK) and human colorectal adenocarcinoma (Caco-2) epithelial cells. 26900323 2016
dbSNP: rs137853200
rs137853200
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1319315
Disease:
Adenocarcinoma of large intestine 		0.010 GeneticVariation BEFREE The effect of five disease-causing mutations, p.P584L (c.1751C>T), p.T940I (c.2819C>T), p.D942fsXC71 (c.2826-9G>A), p.A959T (c.2875G>A), and p.V972GfsX39 (c.2915_2916delTG), on localization of the protein was examined in two in vitro epithelial cell culture systems: Madin-Darby Canine Kidney (MDCK) and human colorectal adenocarcinoma (Caco-2) epithelial cells. 26900323 2016
dbSNP: rs139787163
rs139787163
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1319315
Disease:
Adenocarcinoma of large intestine 		0.010 GeneticVariation BEFREE The effect of five disease-causing mutations, p.P584L (c.1751C>T), p.T940I (c.2819C>T), p.D942fsXC71 (c.2826-9G>A), p.A959T (c.2875G>A), and p.V972GfsX39 (c.2915_2916delTG), on localization of the protein was examined in two in vitro epithelial cell culture systems: Madin-Darby Canine Kidney (MDCK) and human colorectal adenocarcinoma (Caco-2) epithelial cells. 26900323 2016
dbSNP: rs1424847607
rs1424847607
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1319315
Disease:
Adenocarcinoma of large intestine 		0.010 GeneticVariation BEFREE The effect of five disease-causing mutations, p.P584L (c.1751C>T), p.T940I (c.2819C>T), p.D942fsXC71 (c.2826-9G>A), p.A959T (c.2875G>A), and p.V972GfsX39 (c.2915_2916delTG), on localization of the protein was examined in two in vitro epithelial cell culture systems: Madin-Darby Canine Kidney (MDCK) and human colorectal adenocarcinoma (Caco-2) epithelial cells. 26900323 2016
dbSNP: rs139787163
rs139787163
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C0086543
Disease:
Cataract 		0.010 GeneticVariation BEFREE Additionally, we report a rare variant rs139787163 potentially associated with increased susceptibility to cataract. 24014202 2013
dbSNP: rs3754334
rs3754334
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C0036646
Disease:
Age-related cataract 		0.010 GeneticVariation BEFREE Polymorphism, rs3754334, might be a variant on the EPHA2 gene that is commonly associated with the risk for age-related cataract in different ethnical and geographical populations. 23976972 2013
dbSNP: rs3754334
rs3754334
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C0086543
Disease:
Cataract 		0.010 GeneticVariation BEFREE There was no association of rs3754334 with cataract or type of cataract. 22412971 2012
dbSNP: rs6678616
rs6678616
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C0271160
Disease:
Cortical cataract 		0.010 GeneticVariation BEFREE Common variants in EPHA2 were found that showed significant association with cortical cataract, and rs6678616 was the most significant in meta-analyses. 19649315 2009