EMP2, epithelial membrane protein 2, 2013

N. diseases: 46; N. variants: 5
Disease: NEPHROTIC SYNDROME, TYPE 10 ×
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: rs587777482
rs587777482
Entrez Id: 2013
Gene Symbol: EMP2
EMP2
CUI: C4014507
Disease:
NEPHROTIC SYNDROME, TYPE 10 		T 0.800 CausalMutation CLINVAR