Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 Biomarker phenotype HPO
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 63982
Gene Symbol: ANO3
ANO3 		0.100 Biomarker phenotype HPO
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		0.100 Biomarker phenotype HPO
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.100 Biomarker phenotype HPO
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: 8558
Gene Symbol: CDK10
CDK10 		0.100 Biomarker phenotype HPO
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 Biomarker phenotype HPO
Entrez Id: 1303
Gene Symbol: COL12A1
COL12A1 		0.100 Biomarker phenotype HPO
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		0.100 Biomarker phenotype HPO
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		0.100 Biomarker phenotype HPO
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3 		0.100 Biomarker phenotype HPO
Entrez Id: 78989
Gene Symbol: COLEC11
COLEC11 		0.100 Biomarker phenotype HPO
Entrez Id: 1356
Gene Symbol: CP
CP 		0.100 Biomarker phenotype HPO
Entrez Id: 1621
Gene Symbol: DBH
DBH 		0.010 AlteredExpression phenotype BEFREE In 1 of these families, 2 brothers are affected with torticollis and they have high plasma DBH levels. 7312142 1981
Entrez Id: 1785
Gene Symbol: DNM2
DNM2 		0.010 Biomarker phenotype BEFREE Symptoms in DNM2-CNM included bilateral ptosis (n = 3), paresis of the external ocular muscles (n = 2), axonal neuropathy (n = 4), restrictive ventilatory involvement (n = 5), and contractures (n = 5), including muscular torticollis (n = 1) and masticatory muscles (n = 2). 21221624 2011
Entrez Id: 1813
Gene Symbol: DRD2
DRD2 		0.100 Biomarker phenotype HPO
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: 1866
Gene Symbol: DYT7
DYT7 		0.010 Biomarker phenotype BEFREE Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe. 9342206 1997