Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371151471
rs371151471
EFHC1
0.700 GeneticVariation UNIPROT Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy. 28370826

2017
dbSNP: rs371151471
rs371151471
EFHC1
0.700 GeneticVariation UNIPROT Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy. 22727576

2012
dbSNP: rs371151471
rs371151471
EFHC1
0.700 GeneticVariation UNIPROT Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene. 22690745

2012
dbSNP: rs371151471
rs371151471
EFHC1
0.700 GeneticVariation UNIPROT Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development. 22926142

2012
dbSNP: rs371151471
rs371151471
EFHC1
0.700 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs371151471
rs371151471
EFHC1
0.700 GeneticVariation UNIPROT Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. 17634063

2007
dbSNP: rs371151471
rs371151471
EFHC1
0.700 GeneticVariation UNIPROT Mutations in EFHC1 cause juvenile myoclonic epilepsy. 15258581

2004