Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908227
rs121908227
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation BEFREE To better understand the pathomechanisms of this disorder in vivo, we created the first genetic animal model of EA2 by engineering a mouse line carrying the EA2-causing c.4486T>G (p.F1406C) missense mutation in the orthologous mouse Cacna1a gene. 25109669 2014
dbSNP: rs121908226
rs121908226
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT New mutation of CACNA1A gene in episodic ataxia type 2. 21696515 2011
dbSNP: rs121908227
rs121908227
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT New mutation of CACNA1A gene in episodic ataxia type 2. 21696515 2011
dbSNP: rs121908226
rs121908226
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. 20129625 2010
dbSNP: rs121908226
rs121908226
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs121908227
rs121908227
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. 20129625 2010
dbSNP: rs121908227
rs121908227
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs121908226
rs121908226
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. 18602318 2009
dbSNP: rs121908226
rs121908226
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene. 19232643 2009
dbSNP: rs121908227
rs121908227
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene. 19232643 2009
dbSNP: rs121908227
rs121908227
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. 18602318 2009
dbSNP: rs121908226
rs121908226
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT Clinical spectrum of episodic ataxia type 2. 14718690 2004
dbSNP: rs121908226
rs121908226
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 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: rs121908226
rs121908226
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. 15293273 2004
dbSNP: rs121908227
rs121908227
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. 15293273 2004
dbSNP: rs121908227
rs121908227
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 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: rs121908227
rs121908227
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT Clinical spectrum of episodic ataxia type 2. 14718690 2004
dbSNP: rs121908226
rs121908226
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene. 12420090 2002
dbSNP: rs121908227
rs121908227
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene. 12420090 2002
dbSNP: rs121908226
rs121908226
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation BEFREE The Glu 1757 Lys missense mutation is likely to be pathogenic, causing episodic ataxia within a family whose phenotype is indistinguishable from EA2 except for a slightly later age of onset. 11176968 2001
dbSNP: rs121908226
rs121908226
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT The Glu 1757 Lys missense mutation is likely to be pathogenic, causing episodic ataxia within a family whose phenotype is indistinguishable from EA2 except for a slightly later age of onset. 11176968 2001
dbSNP: rs121908226
rs121908226
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. 11723274 2001
dbSNP: rs121908227
rs121908227
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. 11723274 2001
dbSNP: rs121908227
rs121908227
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT Missense CACNA1A mutation causing episodic ataxia type 2. 11176968 2001
dbSNP: rs121908226
rs121908226
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
0.810 GeneticVariation UNIPROT A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. 10408533 1999