PEPD, peptidase D, 5184

N. diseases: 113; N. variants: 36
Disease: Deficiency of prolidase ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs745834191
rs745834191
Entrez Id: 5184
Gene Symbol: PEPD
PEPD
CUI: C0268532
Disease:
Deficiency of prolidase 		G 0.700 GeneticVariation CLINVAR Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue. 23516557 2013
dbSNP: rs745834191
rs745834191
Entrez Id: 5184
Gene Symbol: PEPD
PEPD
CUI: C0268532
Disease:
Deficiency of prolidase 		G 0.700 GeneticVariation CLINVAR Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship. 15309682 2004
dbSNP: rs745834191
rs745834191
Entrez Id: 5184
Gene Symbol: PEPD
PEPD
CUI: C0268532
Disease:
Deficiency of prolidase 		G 0.700 CausalMutation CLINVAR