Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.140 GeneticVariation phenotype BEFREE Children between the ages of 3 and 18 years harboring a pathogenic CACNA1A mutation associated with episodic ataxia, hemiplegic migraine, benign paroxysmal torticollis, benign paroxysmal vertigo, or benign paroxysmal tonic upgaze, were enrolled in this cross-sectional study. 31115040 2020
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.140 GeneticVariation phenotype BEFREE Thus, CACNA1A mutations are more likely to be found in children with benign paroxysmal torticollis if accompanied by family histories of familial hemiplegic migraine, episodic ataxia, or paroxysmal tonic upgaze. 26961263 2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.140 GeneticVariation phenotype BEFREE A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy. 24445160 2014
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.140 GeneticVariation phenotype BEFREE Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation. 12162387 2002
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.140 Biomarker phenotype HPO