Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation. 19811514 2010
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Eye movement disorders are an early manifestation of CACNA1A mutations in children. 26814174 2016
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Stepwise developmental regression associated with novel CACNA1A mutation. 18940563 2008
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls. 9879686 1998
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206 1996
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood. 18498393 2008
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR CaV2.1 channelopathies. 20204399 2010
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. 20156848 2010
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The genetic spectrum of a population-based sample of familial hemiplegic migraine. 17142831 2007
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR New calcium channel mutations predict aberrant RNA splicing in episodic ataxia. 16043807 2005
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. 15710862 2005
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR 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
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085 2017
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. 9403487 1997
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Familial paroxysmal ataxia: report of a family. 1564484 1992
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. 16595610 2006
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Migraine: gene mutations and functional consequences. 17495624 2007
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Primary episodic ataxias: diagnosis, pathogenesis and treatment. 17575281 2007
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. 25758715 2015
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478 2015
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. 8988170 1997
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2. 15300451 2004
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. 23441182 2013
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. 11179022 2001