PREPL, prolyl endopeptidase like, 9581

N. diseases: 58; N. variants: 22
Disease: Cystinuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010691
Disease: Cystinuria
Cystinuria 		0.110 GeneticVariation disease CLINVAR Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants. 28717662 2017
CUI: C0010691
Disease: Cystinuria
Cystinuria 		0.110 GeneticVariation disease CLINVAR The role of N-glycans and the C-terminal loop of the subunit rBAT in the biogenesis of the cystinuria-associated transporter. 26537754 2016
CUI: C0010691
Disease: Cystinuria
Cystinuria 		0.110 GeneticVariation disease CLINVAR Carrier subunit of plasma membrane transporter is required for oxidative folding of its helper subunit. 22493502 2012
CUI: C0010691
Disease: Cystinuria
Cystinuria 		0.110 GeneticVariation disease BEFREE The hypotonia in these hypotonia-cystinuria (HCS) patients has been attributed to the total loss of the PREPL protein. 22766003 2012
CUI: C0010691
Disease: Cystinuria
Cystinuria 		0.110 GeneticVariation disease CLINVAR Pathophysiology and treatment of cystinuria. 20517292 2010
CUI: C0010691
Disease: Cystinuria
Cystinuria 		0.110 GeneticVariation disease CLINVAR New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. 15635077 2005
CUI: C0010691
Disease: Cystinuria
Cystinuria 		0.110 GeneticVariation disease CLINVAR Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. 7573036 1995
CUI: C0010691
Disease: Cystinuria
Cystinuria 		0.110 CausalMutation disease CLINVAR
CUI: C0010691
Disease: Cystinuria
Cystinuria 		0.110 Biomarker disease HPO