Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.800 GeneticVariation UNIPROT Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. 27250579

2016
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.800 GeneticVariation UNIPROT De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654

2016
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		T 0.800 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085

2017
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085

2017
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654

2016
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654

2016
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Eye movement disorders are an early manifestation of CACNA1A mutations in children. 26814174

2016
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Eye movement disorders are an early manifestation of CACNA1A mutations in children. 26814174

2016
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. 25758715

2015
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. 25758715

2015
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. 23441182

2013
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. 23441182

2013
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR The International Classification of Headache Disorders, 3rd edition (beta version). 23771276

2013
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine. 23831250

2013
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine. 23831250

2013
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The International Classification of Headache Disorders, 3rd edition (beta version). 23771276

2013
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS. 22249839

2012
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS. 22249839

2012
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil. 21183743

2011
dbSNP: rs886037945
rs886037945
CACNA1A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil. 21183743

2011