PLCE1, phospholipase C epsilon 1, 51196

N. diseases: 114; N. variants: 57
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3
0.710 Biomarker disease GENOMICS_ENGLAND Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome. 20591883 2010
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3
0.710 GeneticVariation disease BEFREE Second, the recent identification of autosomal recessive nephrotic syndrome type 3 (NPHS3) caused by mutations in the phospholipase PLCE1 gene has, for the first time, shown steroid responsiveness in H-CHNS. 18270750 2008
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3
0.710 GeneticVariation disease UNIPROT Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. 17086182 2006
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3
0.710 CausalMutation disease CLINVAR
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3
0.710 Biomarker disease CTD_human
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3
0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3
0.710 Biomarker disease GENOMICS_ENGLAND