| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Episodic ataxia type 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | New mutation of CACNA1A gene in episodic ataxia type 2. | 21696515 | 2011 | |||||
Episodic ataxia type 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. | 20129625 | 2010 | |||||
Episodic ataxia type 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. | 20050888 | 2010 | |||||
Episodic ataxia type 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene. | 19232643 | 2009 | |||||
Episodic ataxia type 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. | 18602318 | 2009 | |||||
Episodic ataxia type 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. | 15293273 | 2004 | |||||
Episodic ataxia type 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2. | 15173248 | 2004 | |||||
Episodic ataxia type 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Clinical spectrum of episodic ataxia type 2. | 14718690 | 2004 | |||||
Episodic ataxia type 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene. | 12420090 | 2002 | |||||
Episodic ataxia type 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. | 11723274 | 2001 | |||||
Episodic ataxia type 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Missense CACNA1A mutation causing episodic ataxia type 2. | 11176968 | 2001 | |||||
Episodic ataxia type 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. | 10987655 | 1999 | |||||
Episodic ataxia type 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. | 10408533 | 1999 | |||||
Episodic ataxia type 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. | 9302278 | 1997 | |||||
Episodic ataxia type 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. | 8898206 | 1996 | |||||
Episodic ataxia type 2 (disorder)
|
0.800 | GeneticVariation | CLINVAR | ||||||||
Episodic ataxia type 2 (disorder)
|
0.800 | CausalMutation | CLINVAR |