Disease: Hemiplegic migraine, familial type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908211
rs121908211
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1 		0.810 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
dbSNP: rs121908211
rs121908211
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1 		0.810 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
dbSNP: rs121908211
rs121908211
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1 		0.810 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
dbSNP: rs121908211
rs121908211
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1 		0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421 2010
dbSNP: rs121908211
rs121908211
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1 		0.810 GeneticVariation BEFREE Here, we have shown that transgenic mice expressing R192Q or S218L FHM1 mutations have increased SD frequency and propagation speed; enhanced corticostriatal propagation; and, similar to the human FHM1 phenotype, more severe and prolonged post-SD neurological deficits. 19104150 2009
dbSNP: rs121908211
rs121908211
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1 		0.810 GeneticVariation UNIPROT CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine. 18400034 2008
dbSNP: rs121908211
rs121908211
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1 		0.810 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
dbSNP: rs121908211
rs121908211
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1 		0.810 GeneticVariation UNIPROT The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. 11439943 2001
dbSNP: rs121908211
rs121908211
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1 		0.810 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
dbSNP: rs121908211
rs121908211
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1 		0.810 GeneticVariation UNIPROT Genetic heterogeneity in Italian families with familial hemiplegic migraine. 10408532 1999
dbSNP: rs121908211
rs121908211
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1 		0.810 GeneticVariation UNIPROT Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206 1996
dbSNP: rs121908211
rs121908211
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1 		T 0.810 CausalMutation CLINVAR