PLCE1, phospholipase C epsilon 1, 51196

N. diseases: 114; N. variants: 57
Disease: Focal glomerulosclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.140 GeneticVariation disease BEFREE The prevalence of pathogenic mutations in five genes (NPHS2, TRPC6, ACTN4, INF2 and PLCE1) and of APOL1 risk alleles (G1 and G2) was ascertained in children and adults diagnosed between 1984 and 2011 with FSGS by renal biopsy. 24500309 2014
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.140 Biomarker disease BEFREE PLCE1 is a major gene of DMS and is mutated in a non-negligible proportion of FSGS cases without NPHS2 mutations. 20591883 2010
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.140 GeneticVariation disease BEFREE To further define the role of PLCE1 mutations in the etiology of FSGS, we performed mutational analysis in 69 families with FSGS. 18975016 2009
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.140 GeneticVariation disease BEFREE Familial and genetic forms of focal segmental glomerulosclerosis (FSGS) are associated with six different mutations in genes affecting the podocyte (NPHS2, ACTN4, CD2AP, WT1, TRPC6, and PLCE1). 17530296 2007
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.140 Biomarker disease HPO