Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1816
Gene Symbol: DRD5
DRD5 		0.300 Biomarker phenotype CTD_human Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene. 11459908 2001
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
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.120 GeneticVariation phenotype BEFREE PRRT2 mutations are associated with a wide range of clinical syndromes: the various paroxysmal dyskinesias, infantile seizures, paroxysmal torticollis, migraine, hemiplegic migraine, episodic ataxia and even intellectual disability in the homozygous state. 23398397 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.120 GeneticVariation phenotype BEFREE We conclude that heterogeneous paroxysmal disorders are associated with PRRT2 mutations and include paroxysmal torticollis and hemiplegic migraine. 22845787 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.120 Biomarker phenotype HPO
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.110 Biomarker phenotype BEFREE DYT1 gene carriers with dystonia and subjects with torticollis had a significantly prolonged response to rTMS in comparison with healthy subjects. 17078060 2006
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.110 Biomarker phenotype HPO
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		0.100 CausalMutation phenotype CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B 		0.100 GeneticVariation phenotype CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B 		0.100 GeneticVariation phenotype CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
Entrez Id: 2774
Gene Symbol: GNAL
GNAL 		0.100 Biomarker phenotype HPO
Entrez Id: 3208
Gene Symbol: HPCA
HPCA 		0.100 Biomarker phenotype HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 63982
Gene Symbol: ANO3
ANO3 		0.100 Biomarker phenotype HPO
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3 		0.100 Biomarker phenotype HPO
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C 		0.100 Biomarker phenotype HPO
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		0.100 Biomarker phenotype HPO
Entrez Id: 8910
Gene Symbol: SGCE
SGCE 		0.100 Biomarker phenotype HPO
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		0.100 Biomarker phenotype HPO
Entrez Id: 4617
Gene Symbol: MYF5
MYF5 		0.100 Biomarker phenotype HPO
Entrez Id: 79734
Gene Symbol: KCTD17
KCTD17 		0.100 Biomarker phenotype HPO