| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | Hyperbaric oxygen therapy in the management of severe leg ulcers from prolidase deficiency. | 28062424 | 2017 |
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|
T | 0.800 | CausalMutation | CLINVAR | Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue. | 23516557 | 2013 |
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|
T | 0.800 | CausalMutation | CLINVAR | Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family. | 17142620 | 2006 |
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|
T | 0.800 | CausalMutation | CLINVAR | Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts. | 12384772 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts. | 12384772 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Expression and molecular analysis of mutations in prolidase deficiency. | 8900231 | 1996 |
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|
T | 0.800 | CausalMutation | CLINVAR | Expression and molecular analysis of mutations in prolidase deficiency. | 8900231 | 1996 |
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|
T | 0.800 | CausalMutation | CLINVAR | Four novel PEPD alleles causing prolidase deficiency. | 8198124 | 1994 |
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|
0.800 | GeneticVariation | UNIPROT | Four novel PEPD alleles causing prolidase deficiency. | 8198124 | 1994 |
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|
0.800 | GeneticVariation | UNIPROT | A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells. | 2365824 | 1990 |