EMP2, epithelial membrane protein 2, 2013

N. diseases: 46; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777482
rs587777482
Entrez Id: 2013
Gene Symbol: EMP2
EMP2
CUI: C4014507
Disease:
NEPHROTIC SYNDROME, TYPE 10 		0.800 GeneticVariation UNIPROT Mutations in EMP2 cause childhood-onset nephrotic syndrome. 24814193 2014
dbSNP: rs730882194
rs730882194
Entrez Id: 2013
Gene Symbol: EMP2
EMP2
CUI: C4014507
Disease:
NEPHROTIC SYNDROME, TYPE 10 		0.800 GeneticVariation UNIPROT Mutations in EMP2 cause childhood-onset nephrotic syndrome. 24814193 2014
dbSNP: rs11074889
rs11074889
Entrez Id: 2013
Gene Symbol: EMP2
EMP2
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder 		A 0.800 GeneticVariation GWASCAT Family-based genome-wide association scan of attention-deficit/hyperactivity disorder. 20732626 2010
dbSNP: rs11074889
rs11074889
Entrez Id: 2013
Gene Symbol: EMP2
EMP2
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder 		A 0.800 GeneticVariation GWASDB Family-based genome-wide association scan of attention-deficit/hyperactivity disorder. 20732626 2010
dbSNP: rs587777482
rs587777482
Entrez Id: 2013
Gene Symbol: EMP2
EMP2
CUI: C4014507
Disease:
NEPHROTIC SYNDROME, TYPE 10 		T 0.800 CausalMutation CLINVAR
dbSNP: rs730882194
rs730882194
Entrez Id: 2013
Gene Symbol: EMP2
EMP2
CUI: C4014507
Disease:
NEPHROTIC SYNDROME, TYPE 10 		C 0.800 CausalMutation CLINVAR
dbSNP: rs9937170
rs9937170
Entrez Id: 2013
Gene Symbol: EMP2
EMP2
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs587777481
rs587777481
Entrez Id: 2013
Gene Symbol: EMP2
EMP2
CUI: C4014507
Disease:
NEPHROTIC SYNDROME, TYPE 10 		A 0.700 CausalMutation CLINVAR