Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration. 20233618 2010
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration. 20233618 2010
dbSNP: rs1555756091
rs1555756091
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration. 20233618 2010
dbSNP: rs886037945
rs886037945
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration. 20233618 2010
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		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: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717 2010
dbSNP: rs1555756091
rs1555756091
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717 2010
dbSNP: rs886037945
rs886037945
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		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: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 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 Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. 8988170 1997
dbSNP: rs1555756091
rs1555756091
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 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: rs886037945
rs886037945
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. 8988170 1997
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 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 C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. 16595610 2006
dbSNP: rs1555756091
rs1555756091
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 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: rs886037945
rs886037945
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. 16595610 2006
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 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 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478 2015
dbSNP: rs1555756091
rs1555756091
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478 2015
dbSNP: rs886037945
rs886037945
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478 2015
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 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 CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood. 18498393 2008
dbSNP: rs1555756091
rs1555756091
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood. 18498393 2008
dbSNP: rs886037945
rs886037945
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood. 18498393 2008
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR CaV2.1 channelopathies. 20204399 2010