PLCE1, phospholipase C epsilon 1, 51196

N. diseases: 114; N. variants: 57
Disease: Diffuse mesangial sclerosis (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		0.160 GeneticVariation disease BEFREE Mutations in phospholipase C ε‑1 (PLCE1) have been reported as a cause of early onset NS characterized by histology of diffuse mesangial sclerosis. 30280192 2018
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		0.160 GeneticVariation disease BEFREE Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation. 21365190 2011
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		0.160 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: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		0.160 GeneticVariation disease BEFREE We conclude this nonpenetrance may be due to compensatory mutations at a second locus and that mutation within PLCE1 is not always sufficient to cause diffuse mesangial sclerosis. 19037252 2009
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		0.160 Biomarker disease BEFREE Mutations in PLCE1/NPHS3 have recently been reported as a cause of nephrotic syndrome characterized by diffuse mesangial sclerosis (DMS) histology. 18975016 2009
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		0.160 GeneticVariation disease BEFREE We therefore determine in this study the relative frequency of mutations in PLCE1, WT1 or LAMB2 as the cause of IDMS in a worldwide cohort. 18065803 2008
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		0.160 Biomarker disease HPO