Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. | 28742085 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Eye movement disorders are an early manifestation of CACNA1A mutations in children. | 26814174 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. | 27476654 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. | 25758715 | 2015 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. | 25735478 | 2015 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | De novo mutations in epileptic encephalopathies. | 23934111 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. | 23441182 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The International Classification of Headache Disorders, 3rd edition (beta version). | 23771276 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine. | 23831250 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS. | 22249839 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil. | 21183743 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation. | 19811514 | 2010 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | CaV2.1 channelopathies. | 20204399 | 2010 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. | 20156848 | 2010 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation. | 20097664 | 2010 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration. | 20233618 | 2010 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. | 20682717 | 2010 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. | 20129625 | 2010 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings. | 19484318 | 2009 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Stepwise developmental regression associated with novel CACNA1A mutation. | 18940563 | 2008 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood. | 18498393 | 2008 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Large CACNA1A deletion in a family with episodic ataxia type 2. | 18541804 | 2008 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The genetic spectrum of a population-based sample of familial hemiplegic migraine. | 17142831 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Migraine: gene mutations and functional consequences. | 17495624 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Primary episodic ataxias: diagnosis, pathogenesis and treatment. | 17575281 | 2007 |