rs121908220, CACNA1A

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
0.800 GeneticVariation UNIPROT Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family. 28900389 2017
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
0.800 GeneticVariation UNIPROT A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx. 26716990 2015
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
0.800 GeneticVariation UNIPROT Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A. 24836863 2014
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421 2010
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
0.800 GeneticVariation UNIPROT CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine. 18400034 2008
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
0.800 GeneticVariation UNIPROT A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine. 15032980 2004
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
0.800 GeneticVariation UNIPROT The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. 11439943 2001
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
0.800 GeneticVariation UNIPROT Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. 11409427 2001
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
0.800 GeneticVariation UNIPROT Genetic heterogeneity in Italian families with familial hemiplegic migraine. 10408532 1999
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
0.800 GeneticVariation UNIPROT Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206 1996
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
0.800 CausalMutation CLINVAR
Progressive cerebellar ataxia
CUI: C0393525
Disease: Progressive cerebellar ataxia
0.010 GeneticVariation BEFREE Progressive cerebellar ataxia with variable episodic symptoms--phenotypic diversity of R1668W CACNA1A mutation. 18437043 2008