Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. | 22832103 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. | 22243967 | 2012 |
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|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
GC | 0.700 | CausalMutation | CLINVAR | The evolving spectrum of PRRT2-associated paroxysmal diseases. | 26598493 | 2015 |
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|
GC | 0.700 | CausalMutation | CLINVAR | Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. | 22131361 | 2012 |
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|
GC | 0.700 | CausalMutation | CLINVAR | Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. | 22209761 | 2012 |
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|
GC | 0.700 | CausalMutation | CLINVAR | Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. | 22120146 | 2011 |
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|
GC | 0.700 | CausalMutation | CLINVAR | Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. | 22101681 | 2011 |
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|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
TC | 0.700 | CausalMutation | CLINVAR | ||||||
|
CT | 0.700 | CausalMutation | CLINVAR |