| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
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 |
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|
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 |
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|
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 |
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|
0.800 | GeneticVariation | UNIPROT | EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. | 20298421 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine. | 18400034 | 2008 |
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|
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 |
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|
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 |
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|
0.800 | GeneticVariation | UNIPROT | The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. | 11439943 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Genetic heterogeneity in Italian families with familial hemiplegic migraine. | 10408532 | 1999 |
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|
0.800 | GeneticVariation | UNIPROT | Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. | 8898206 | 1996 |
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|
C | 0.800 | CausalMutation | CLINVAR |