EPHA3, EPH receptor A3, 2042

N. diseases: 193; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.020 GeneticVariation disease BEFREE To elucidate the role of FUS in ALS, we overexpressed wild-type and two mutant forms of FUS in HEK-293T cells, as well as knocked-down FUS expression. 23577159 2013
Amyotrophic Lateral Sclerosis, Sporadic
0.010 GeneticVariation disease BEFREE Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: deletion of EPHA3 is a possible protective factor. 23991104 2013
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency
0.010 AlteredExpression disease BEFREE We determined mRNA and protein levels of EPHA3 and AR signaling‑related genes in the PCa cell line 22Rv1 by reverse transcription‑polymerase chain reaction (RT‑PCR) and western blotting, respectively. 29917167 2018
CUI: C0004096
Disease: Asthma
Asthma
0.010 Biomarker disease BEFREE This study explores whether a chimeric gene R8, derived from the major group 1 allergen of house dust mite species (Dermatophagoides farinae and Dermatophagoides pteronyssinus), can be expressed in Human Embryonic Kidney 293 cells (HEK 293 T) and whether such a construct can be used as a DNA vaccine in asthma therapy. 25337189 2014
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.400 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.400 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.400 GeneticVariation disease GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C1332347
Disease: Atypical Ductal Breast Hyperplasia
Atypical Ductal Breast Hyperplasia
0.020 GeneticVariation disease BEFREE Expression of the N124K mutant receptor created by site-directed mutagenesis and transfected into HEK-293 cells was comparable with that of the wild-type (WT) receptor and two other mutant receptors N118K and L125P identified in subjects with ADH. 12162500 2002
CUI: C1332347
Disease: Atypical Ductal Breast Hyperplasia
Atypical Ductal Breast Hyperplasia
0.020 AlteredExpression disease BEFREE All 4 known mutations causing BS type 5 and five ADH mutations were expressed in HEK 293T cells and receptor signalling was studied by measurement of intracellular free calcium in response to extracellular calcium ([Ca2+]o). 25506941 2014
Autosomal Recessive Polycystic Kidney Disease
0.010 Biomarker disease BEFREE To determine whether defects in other human cystoproteins have similar effects, we studied extracellular acidification and glucose metabolism in human embryonic kidney (HEK-293) cell lines with polycystic kidney and hepatic disease 1 ( PKHD1) and polycystic kidney disease (PKD) 2 ( PKD2) truncating defects along multiple sites of truncating mutations found in patients with autosomal recessive and dominant PKDs. 30566001 2019
CUI: C0004775
Disease: Bartter Disease
Bartter Disease
0.010 GeneticVariation disease BEFREE All 4 known mutations causing BS type 5 and five ADH mutations were expressed in HEK 293T cells and receptor signalling was studied by measurement of intracellular free calcium in response to extracellular calcium ([Ca2+]o). 25506941 2014
CUI: C0006109
Disease: Brain Damage, Chronic
Brain Damage, Chronic
0.010 AlteredExpression disease BEFREE An additional 10% of the PAM group had an abnormally high activation ratio but normal ETK activity, as did 30% of the BDAM group. 12454526 2002
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma
0.020 Biomarker disease BEFREE Cytotoxicity studies on both cancerous (human breast adenocarcinoma MCF-7) and normal (Human embryonic kidney HEK-293) cell lines revealed their excellent biocompatibility. 29178994 2018
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma
0.020 GeneticVariation disease BEFREE Novel Mannich base derivatives of glabridin were synthesized and their antiproliferative activity were performed along with our previously reported glabridin-chalcone hybrids molecules (GCHMs) against various human cell lines MDA-MB-231 (breast adenocarcinoma), HEK-293 (embryonic kidney cell line), K562 (leukemia), MCF-7 (breast adenocarcinoma), HeLa (cervix adenocarcinoma), HepG2 (hepatocellular carcinoma) and WRL-68 (hepatic carcinoma). 30580626 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.090 Biomarker disease BEFREE In addition, cell-proliferation inhibition activity for all four ligands on the Human embryonic kidney (HEK-293) and breast cancer cell lines (MCF-7) was performed using MTT assay. 27748164 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.090 Biomarker disease BEFREE Transfection experiments which overexpressed the full-length EG-1 gene in human embryonic kidney HEK-293 cells or human breast cancer cell lines resulted in significantly increased in vitro proliferation, in comparison with transfection with empty vectors. 16024617 2005
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.090 Biomarker disease BEFREE The in vitro biocompatibility and cytotoxicity tests of these films were also conducted using 3-(4,5-dimethylthiazole-2-yl-2,5-diphenyl tetrazolium bromide) assay of human embryonic kidney (HEK-293) and human breast cancer (MCF-7) cell lines up to 48 h, which shows their biocompatible nature. 30556014 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.090 AlteredExpression disease BEFREE And EPHA3 could be up-regulated by Sam68 in breast cancer. 31433759 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.090 GeneticVariation disease BEFREE In an effort to settle the controversy, we tested several stable E1A transfectants of cell lines MDA-MB-231, MCF-7, MDA-MB-435 (breast cancer), SKOV3-ipl (ovarian cancer), and PC-3 (prostate cancer), as well as parental and vector-transfected controls, HEK 293 cells, and RD-ES (Ewing sarcoma) cells, for the EWS-FLI1 fusion product. 11051226 2000
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.090 Biomarker disease BEFREE We show that overexpression of JMJD6 increased HOTAIR expression and JMJD6 siRNAs suppressed it in ER+ MCF-7, triple negative MDA-MB-231 and non-breast cancer HEK 293 cells. 29229759 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.090 Biomarker disease BEFREE YH0618 selectively attenuated DOX-induced growth inhibition and apoptosis in human normal liver L02 cells and kidney HEK-293 cells, and simultaneously potentiated the anti-cancer effect of DOX in breast cancer MCF-7 and MDA-MB-231 cells by apoptosis pathways. 31333784 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.090 Biomarker disease BEFREE The proteins were added to human breast cancer cells (MDA-MB-231) and human embryonic kidney cells (HEK-293) in order to investigate the characteristic of selective targeting and releasing of scorpion toxin AGAP in cancer cells with high uPAR expression. 29172777 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.090 Biomarker disease BEFREE Based on these findings, we have synthesized some new diflunisal thiosemicarbazides and 1,2,4-triazoles and tested them against androgen-independent prostate adenocarcinoma (PC-3), colon carcinoma (HCT-116), human breast cancer (T47D), breast carcinoma (MCF7) and human embryonic kidney (HEK-293) cell lines. 30082676 2018
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.010 GeneticVariation disease BEFREE We report the analysis of two novel mutations on the same codon, Y1795C (LQT-3) and Y1795H (BrS), expressed in HEK 293 cells and characterized using whole-cell patch clamp procedures. 11410597 2001
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.070 GeneticVariation phenotype BEFREE Our study shows how biological complexity can challenge in vivo functional validation of mutations identified in sequencing efforts, and provides an incentive for the design of knock-in or conditional models to assign the role of EPHA3 mutation during lung tumorigenesis. 25713296 2015