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 CTD_human
CUI: C4014507
Disease: NEPHROTIC SYNDROME, TYPE 10
NEPHROTIC SYNDROME, TYPE 10 		0.700 CausalMutation disease CLINVAR
CUI: C0032051
Disease: Placental Insufficiency
Placental Insufficiency 		0.210 Biomarker disease MGD
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.110 Biomarker group HPO
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: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.010 Biomarker disease LHGDN Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. 11713717 2002
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		0.020 Biomarker group LHGDN Diabodies targeting epithelial membrane protein 2 reduce tumorigenicity of human endometrial cancer cell lines. 19010852 2008
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: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 Biomarker disease BEFREE The homodimeric MtGMPS catalyzes the conversion of XMP, MgATP, and glutamine into GMP, ADP, PP(i), and glutamate. 22119138 2012
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
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 Biomarker group BEFREE It may also have value for imaging of tumor localization and therapeutic response in patients with EMP2-positive malignancies. 22585360 2013
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.020 AlteredExpression disease 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
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		0.020 Biomarker group BEFREE Following conjugation to DOTA (1,4,7,10-tetraazacyclododecane-N,N',N',N'″-tetraacetic acid), the minibody was radiolabeled with (64)Cu (t (1/2) = 12.7 h) and evaluated in mice as a positron emission tomography (PET) imaging agent for human EMP2-expressing endometrial tumor xenografts. 22585360 2013
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.020 AlteredExpression disease 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
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.090 Biomarker group BEFREE EMP2 was identified as a tumor-suppressor gene in urinary tract urothelial carcinoma and may be an innovative co-targeting candidate for designing integrin-based cancer therapy. 23838430 2013
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell 		0.010 Biomarker disease BEFREE EMP2 was identified as a tumor-suppressor gene in urinary tract urothelial carcinoma and may be an innovative co-targeting candidate for designing integrin-based cancer therapy. 23838430 2013
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.010 AlteredExpression disease BEFREE EMP2 overexpression suppressed foci formation, anchorage-independent growth in vitro, and tumorigenicity in severe combined immunodeficiency mice (all P < 0.05). 23838430 2013
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma 		0.010 Biomarker disease BEFREE EMP2 was identified as a tumor-suppressor gene in urinary tract urothelial carcinoma and may be an innovative co-targeting candidate for designing integrin-based cancer therapy. 23838430 2013
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: 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