EPHA1, EPH receptor A1, 2041

N. diseases: 119; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease BEFREE The results suggest that alterations in Eph receptors may play a role in synaptic dysfunction in the hippocampus leading to cognitive impairment in a model of AD. 19542617 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease GWASCAT Shared genetic architecture between metabolic traits and Alzheimer's disease: a large-scale genome-wide cross-trait analysis. 30805717 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease BEFREE We think that rs11767557 may modify the expression of nearby genes such as EPHA1 and further cause AD risk. 29332039 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease GWASCAT GWAS on family history of Alzheimer's disease. 29777097 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease BEFREE This study suggests EPHA1 (rs11771145) interferes with the pathological alteration of the hippocampus and the lateral occipitotemporal and inferior temporal gyri throughout the AD process, leading to a lower risk of AD. 25182741 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease BEFREE Five genomewide association studies (GWAS) in white populations have recently identified and confirmed 9 novel Alzheimer's disease (AD) susceptibility loci (CLU, CR1, PICALM, BIN1, ABCA7, MS4A gene cluster, CD2AP, CD33, and EPHA1). 23232270 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease BEFREE Genome-wide association studies and meta-analyses implicated that increased risk of developing Alzheimer's diseases (AD) has been associated with the ABCA7, APOE, BIN1, CASS4, CD2AP, CD33, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB1, HLA-DRB4, INPP5D, MEF2C, MS4A4A, MS4A4E, MS4A6E, NME8, PICALM, PLD3, PTK2B, RIN3, SLC24A4, SORL1, and ZCWPW1 genes. 28199971 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.380 GeneticVariation disease BEFREE The aim of the present study was to determine the relation of EPH tyrosine kinase receptor B2 (EPHB2) A9 region mutation and microsatellite instability (MSI); and to analyze their influence in prognosis of patients with sporadic colorectal cancer (CRC). 24222164 2013
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.370 GeneticVariation disease BEFREE A stop-gain mutation in ABCA7 (E1679X) and missense mutation in CD2AP (K633R) were highly significant in Caucasian LOAD cases, and mutations in EPHA1 (P460L) and BIN1 (K358R) were significant in Caribbean Hispanic families with LOAD. 26101835 2015
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.370 GeneticVariation disease BEFREE ABCA7 and EphA1 Genes Polymorphisms in Late-Onset Alzheimer's Disease. 31659653 2020
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.370 GeneticVariation disease BEFREE ABCA7-rs3764650-C and EPHA1-rs11767557-A associated with increased rates of memory decline in subjects with a final diagnosis of MCI/LOAD. 25189118 2015
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.370 GeneticVariation disease BEFREE Correction to: ABCA7 and EphA1 Genes Polymorphisms in Late-Onset Alzheimer's Disease. 31823285 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE We focus on the non-catalytic functions of Eph receptors with relevance to cancer, which are further substantiated by exploring the role of the two pseudokinase Eph receptors, EphA10 and EphB6. 31406248 2019
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT Shared genetic architecture between metabolic traits and Alzheimer's disease: a large-scale genome-wide cross-trait analysis. 30805717 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 GeneticVariation group BEFREE We focus on the non-catalytic functions of Eph receptors with relevance to cancer, which are further substantiated by exploring the role of the two pseudokinase Eph receptors, EphA10 and EphB6. 31406248 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		0.030 GeneticVariation disease BEFREE Mutations of EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases, is the cause of CFNS. 28140668 2018
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		0.030 GeneticVariation disease BEFREE The replacement of Glu125 with Lys, which lies within the G-H loop, part of the dimerization ligand-receptor interface, is expected to disrupt the interaction between the Eph receptor and ephrin B1 ligand, thus leading to craniofrontonasal syndrome. 21385071 2012
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		0.030 GeneticVariation disease BEFREE Recently, we have mapped a gene for CFNS in the pericentromeric region of the X chromosome that contains the EFNB1 gene, which encodes the ephrin-B1 ligand for Eph receptors. 15124102 2004
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.030 GeneticVariation disease BEFREE HTK (hepatoma transmembrane kinase) is a receptor tyrosine kinase belonging to the EPH subfamily of tyrosine kinases. 10221518 1999
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation disease BEFREE Our study provides the structural and dynamic understanding of the T46I-causing ALS; and strongly highlights the possibility that the interplay of two signaling networks mediated by the FFAT-containing proteins and Eph receptors may play a key role in ALS pathogenesis. 22069488 2011
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.010 GeneticVariation disease BEFREE High Aβ deposition was associated significantly with a lower Mini-Mental State Examination score (<27 points, p = 0.04), high systolic blood pressure (p = 0.04), carrying the apolipoprotein E epsilon 4 allele (p < 0.01), and lower plasma ApoE levels (p = 0.02), and variation in the ABCA7 (p = 0.02) and EPHA1 genes (p = 0.02). 24199960 2014
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.010 GeneticVariation group BEFREE HTK (hepatoma transmembrane kinase) is a receptor tyrosine kinase belonging to the EPH subfamily of tyrosine kinases. 10221518 1999
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.010 GeneticVariation group BEFREE In fact, Nectin-2 (NC-2); apolipoprotein E (APOE); glycoprotein carcinoembryonic antigen related cell adhesion molecule-16 (CEACAM-16); B-cell lymphoma-3 (Bcl-3); translocase of outer mitochondrial membrane 40 homolog (T0MM-40); complement receptor-1 (CR-l); APOJ or clusterin and C-type lectin domain A family-16 member (CLEC-16A); Phosphatidyl inositol- binding clathrin assembly protein gene (PICALM); ATP-bonding cassette, sub family A, member 7 (ABCA7); membrane spanning A4 (MSA4); CD2 associated protein (CD2AP); cluster of differentiation 33 (CD33); and ephrin receptor A1 (EPHA1) result in a genetic signature that might affect individual brain susceptibility to infection by the herpes virus family during aging, leading to neuronal loss, inflammation, and amyloid deposition. 21891868 2011