rs121912605, PLCE1

N. diseases: 1
Disease: NEPHROTIC SYNDROME, TYPE 3 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEPHROTIC SYNDROME, TYPE 3
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
0.800 GeneticVariation UNIPROT Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. 17086182 2006
NEPHROTIC SYNDROME, TYPE 3
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
0.800 CausalMutation CLINVAR