Disease: Episodic ataxia type 2 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908229
rs121908229
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		0.710 GeneticVariation UNIPROT New mutation of CACNA1A gene in episodic ataxia type 2. 21696515 2011
dbSNP: rs121908229
rs121908229
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		0.710 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs121908229
rs121908229
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		0.710 GeneticVariation UNIPROT Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. 20129625 2010
dbSNP: rs121908229
rs121908229
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		0.710 GeneticVariation UNIPROT Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene. 19232643 2009
dbSNP: rs121908229
rs121908229
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		0.710 GeneticVariation UNIPROT Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. 18602318 2009
dbSNP: rs121908229
rs121908229
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		0.710 GeneticVariation BEFREE We also tested the direct effect of acetazolamide on both wild-type and H1736L mutated P/Q-type channels and did not observe any direct action on channel properties of this pharmacological agent used to treat EA2 patients. 15293273 2004
dbSNP: rs121908229
rs121908229
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		0.710 GeneticVariation UNIPROT Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2. 15173248 2004
dbSNP: rs121908229
rs121908229
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		0.710 GeneticVariation UNIPROT Clinical spectrum of episodic ataxia type 2. 14718690 2004
dbSNP: rs121908229
rs121908229
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		0.710 GeneticVariation UNIPROT We also tested the direct effect of acetazolamide on both wild-type and H1736L mutated P/Q-type channels and did not observe any direct action on channel properties of this pharmacological agent used to treat EA2 patients. 15293273 2004
dbSNP: rs121908229
rs121908229
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		0.710 GeneticVariation UNIPROT Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene. 12420090 2002
dbSNP: rs121908229
rs121908229
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		0.710 GeneticVariation UNIPROT Missense CACNA1A mutation causing episodic ataxia type 2. 11176968 2001
dbSNP: rs121908229
rs121908229
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		0.710 GeneticVariation UNIPROT Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. 11723274 2001
dbSNP: rs121908229
rs121908229
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		0.710 GeneticVariation UNIPROT A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. 10408533 1999
dbSNP: rs121908229
rs121908229
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		0.710 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
dbSNP: rs121908229
rs121908229
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		0.710 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
dbSNP: rs121908229
rs121908229
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		0.710 GeneticVariation UNIPROT Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206 1996