EMP2, epithelial membrane protein 2, 2013

N. diseases: 46; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014507
Disease: NEPHROTIC SYNDROME, TYPE 10
NEPHROTIC SYNDROME, TYPE 10 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in EMP2 cause childhood-onset nephrotic syndrome. 24814193 2014
CUI: C4014507
Disease: NEPHROTIC SYNDROME, TYPE 10
NEPHROTIC SYNDROME, TYPE 10 		0.700 GeneticVariation disease UNIPROT Mutations in EMP2 cause childhood-onset nephrotic syndrome. 24814193 2014
CUI: C4014507
Disease: NEPHROTIC SYNDROME, TYPE 10
NEPHROTIC SYNDROME, TYPE 10 		0.700 Biomarker disease CTD_human
CUI: C4014507
Disease: NEPHROTIC SYNDROME, TYPE 10
NEPHROTIC SYNDROME, TYPE 10 		0.700 CausalMutation disease CLINVAR
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		0.310 GeneticVariation disease BEFREE Mutations in Epithelial Membrane Protein 2 (<i>EMP2</i>), a member of the GAS3/PMP22 tetraspan family of proteins, were recently implicated as putative monogenic cause of steroid sensitive nephrotic syndrome. 31508419 2019
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		0.310 Biomarker disease GENOMICS_ENGLAND Mutations in EMP2 cause childhood-onset nephrotic syndrome. 24814193 2014
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.300 GermlineCausalMutation disease ORPHANET Mutations in EMP2 cause childhood-onset nephrotic syndrome. 24814193 2014
CUI: C0032051
Disease: Placental Insufficiency
Placental Insufficiency 		0.210 Biomarker disease BEFREE To determine if these results translated to human pregnancy, placentas from normal, term deliveries or those complicated by placental insufficiency resulting in intrauterine growth restriction (IUGR) were stained for EMP2. 28295343 2017
CUI: C0032051
Disease: Placental Insufficiency
Placental Insufficiency 		0.210 Biomarker disease MGD
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.110 Biomarker group BEFREE Knockdown of emp2 in zebrafish resulted in pericardial effusion, supporting the pathogenic role of mutated EMP2 in human NS. 24814193 2014
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.110 Biomarker group HPO
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 GeneticVariation disease GWASCAT Family-based genome-wide association scan of attention-deficit/hyperactivity disorder. 20732626 2010
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 GeneticVariation disease GWASDB Family-based genome-wide association scan of attention-deficit/hyperactivity disorder. 20732626 2010
CUI: C0024236
Disease: Lymphedema
Lymphedema 		0.100 Biomarker disease HPO
CUI: C1704320
Disease: Glomerulonephritis, Minimal Change
Glomerulonephritis, Minimal Change 		0.100 Biomarker disease HPO
CUI: C3280103
Disease: Podocyte foot process effacement
Podocyte foot process effacement 		0.100 Biomarker phenotype HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.090 Biomarker group BEFREE Epithelial membrane protein 2: a novel biomarker for circulating tumor cell recovery in breast cancer. 30218306 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.090 AlteredExpression group BEFREE Further, miR-133b can be considered a tumor suppressor because of its low expression and effects on cell apoptosis via down-regulating EMP2 expression and activating the apoptotic cell pathway in glioma. 29940748 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.090 Biomarker group BEFREE In the current study, we demonstrated the tumor suppressing role of epithelial membrane protein-2 (EMP2) by inducing apoptosis in a A375 human melanoma cell line. 31333775 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.090 AlteredExpression group BEFREE No significant difference was found between median survival among patients with GBM tumors exhibiting high EMP2 expression and survival of those with low EMP2 expression (8.38 vs. 10.98 months, P = 0.39). 28887715 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.090 Biomarker group BEFREE Translational research suggests that EMP2 may be targeted with antibodies to improve tumor control and survival in a variety of murine models and cancer types. 28720310 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.090 Biomarker group BEFREE A potential therapeutic effect of a systemic administration of anti-EMP2 IgG1 on intracranial xenografts was observed resulting in both significant reduction of tumor load and decreased tumor vasculature. 28597184 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.090 Biomarker group BEFREE Significantly correlation between the EMP2 immunointensity and primary tumor, nodal status, histological grade, vascular invasion and mitotic activity was identified. 25940704 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.090 Biomarker group BEFREE The residualizing agent, (64)Cu-DOTA anti-EMP2 minibody, achieved high uptake in endometrial cancer xenografts overexpressing EMP2 (10.2 ± 2.6, percent injected dose per gram (%ID/g) ± SD) with moderate uptake in wild-type HEC1A tumors (6.0 ± 0.1). 22585360 2013