Gene: CACNA1A ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. 20156848

2010
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717

2010
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation. 20097664

2010
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. 20129625

2010
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. 20156848

2010
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation. 20097664

2010
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation. 19811514

2010
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717

2010
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR CaV2.1 channelopathies. 20204399

2010
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. 20129625

2010
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration. 20233618

2010
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings. 19484318

2009
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings. 19484318

2009
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR Stepwise developmental regression associated with novel CACNA1A mutation. 18940563

2008
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR Large CACNA1A deletion in a family with episodic ataxia type 2. 18541804

2008
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood. 18498393

2008
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood. 18498393

2008
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR Stepwise developmental regression associated with novel CACNA1A mutation. 18940563

2008
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR Large CACNA1A deletion in a family with episodic ataxia type 2. 18541804

2008
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR Primary episodic ataxias: diagnosis, pathogenesis and treatment. 17575281

2007
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR Migraine: gene mutations and functional consequences. 17495624

2007
dbSNP: rs1057520918
rs1057520918
CACNA1A
T 0.700 CausalMutation CLINVAR The genetic spectrum of a population-based sample of familial hemiplegic migraine. 17142831

2007
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR Primary episodic ataxias: diagnosis, pathogenesis and treatment. 17575281

2007
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR The genetic spectrum of a population-based sample of familial hemiplegic migraine. 17142831

2007
dbSNP: rs886037945
rs886037945
CACNA1A
T 0.700 GeneticVariation CLINVAR Migraine: gene mutations and functional consequences. 17495624

2007