PLCE1, phospholipase C epsilon 1, 51196

N. diseases: 114; N. variants: 57
Disease: NEPHROTIC SYNDROME, TYPE 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912605
rs121912605
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
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
dbSNP: rs121912605
rs121912605
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C1853124
Disease:
NEPHROTIC SYNDROME, TYPE 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912601
rs121912601
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C1853124
Disease:
NEPHROTIC SYNDROME, TYPE 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912602
rs121912602
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C1853124
Disease:
NEPHROTIC SYNDROME, TYPE 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912603
rs121912603
Entrez Id: 51196;100128054
Gene Symbol: PLCE1;PLCE1-AS1
PLCE1;PLCE1-AS1
CUI: C1853124
Disease:
NEPHROTIC SYNDROME, TYPE 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912604
rs121912604
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C1853124
Disease:
NEPHROTIC SYNDROME, TYPE 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267606953
rs267606953
Entrez Id: 51196;64318
Gene Symbol: PLCE1;NOC3L
PLCE1;NOC3L
CUI: C1853124
Disease:
NEPHROTIC SYNDROME, TYPE 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267606954
rs267606954
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C1853124
Disease:
NEPHROTIC SYNDROME, TYPE 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267606955
rs267606955
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C1853124
Disease:
NEPHROTIC SYNDROME, TYPE 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs876657369
rs876657369
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C1853124
Disease:
NEPHROTIC SYNDROME, TYPE 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs876657370
rs876657370
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C1853124
Disease:
NEPHROTIC SYNDROME, TYPE 3 		T 0.700 CausalMutation CLINVAR