rs745834191, PEPD

N. diseases: 1
Disease: Deficiency of prolidase ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Deficiency of prolidase
CUI: C0268532
Disease: Deficiency of prolidase
0.700 GeneticVariation CLINVAR Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue. 23516557 2013
Deficiency of prolidase
CUI: C0268532
Disease: Deficiency of prolidase
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
Deficiency of prolidase
CUI: C0268532
Disease: Deficiency of prolidase
0.700 CausalMutation CLINVAR