PLCL1, phospholipase C like 1 (inactive), 5334

N. diseases: 69; N. variants: 96
Disease: Nephrotic Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.010 GeneticVariation group BEFREE Using positional cloning, we identified mutations in the phospholipase C epsilon gene (PLCE1) as causing early-onset nephrotic syndrome with end-stage kidney disease. 17086182 2006