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 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 Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085 2017
dbSNP: rs1555756091
rs1555756091
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085 2017
dbSNP: rs886037945
rs886037945
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085 2017
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Eye movement disorders are an early manifestation of CACNA1A mutations in children. 26814174 2016
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
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 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
dbSNP: rs1555756091
rs1555756091
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
dbSNP: rs1555756091
rs1555756091
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Eye movement disorders are an early manifestation of CACNA1A mutations in children. 26814174 2016
dbSNP: rs886037945
rs886037945
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
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
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Eye movement disorders are an early manifestation of CACNA1A mutations in children. 26814174 2016
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. 25758715 2015
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 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: 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: rs1555756091
rs1555756091
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. 25758715 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: rs886037945
rs886037945
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
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: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR The International Classification of Headache Disorders, 3rd edition (beta version). 23771276 2013
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine. 23831250 2013
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 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 De novo mutations in epileptic encephalopathies. 23934111 2013