PLCE1, phospholipase C epsilon 1, 51196

N. diseases: 114; N. variants: 57
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.300 GermlineCausalMutation disease ORPHANET Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome. 20591883 2010