rs121908215, CACNA1A

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: 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)
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
Spinocerebellar Ataxia Type 6 (disorder)
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT Progressive ataxia due to a missense mutation in a calcium-channel gene. 9345107 1997
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: 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
Spinocerebellar Ataxia Type 6 (disorder)
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717 2010
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
0.800 GeneticVariation UNIPROT Missense CACNA1A mutation causing episodic ataxia type 2. 11176968 2001
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
0.800 GeneticVariation UNIPROT Clinical spectrum of episodic ataxia type 2. 14718690 2004
Spinocerebellar Ataxia Type 6 (disorder)
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (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)
CUI: C1720416
Disease: 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)
CUI: C1720416
Disease: 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
Spinocerebellar Ataxia Type 6 (disorder)
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350 2014
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: 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
Spinocerebellar Ataxia Type 6 (disorder)
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
Spinocerebellar Ataxia Type 6 (disorder)
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. 8988170 1997
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: 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)
CUI: C1720416
Disease: 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
Spinocerebellar Ataxia Type 6 (disorder)
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 16325861 2006
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: 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
Spinocerebellar Ataxia Type 6 (disorder)
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796 2017
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: 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)
CUI: C1720416
Disease: 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)
CUI: C1720416
Disease: 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)
CUI: C1720416
Disease: 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
Progressive cerebellar ataxia
CUI: C0393525
Disease: Progressive cerebellar ataxia
0.010 GeneticVariation BEFREE In addition to altered channel function, the deficiency in protein misfolding and trafficking associated with the C287Y and G293R mutants may contribute to the slowly progressive cerebellar ataxia. 15985579 2005
Spinocerebellar Ataxia Type 6 (disorder)
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
0.800 CausalMutation CLINVAR