Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142
0.100 Biomarker phenotype HPO
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
0.100 Biomarker phenotype HPO
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
0.100 Biomarker phenotype HPO
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
0.100 Biomarker phenotype HPO
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.110 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: 55145
Gene Symbol: THAP1
THAP1
0.100 Biomarker phenotype HPO
Entrez Id: 343641
Gene Symbol: TGM6
TGM6
0.100 Biomarker phenotype HPO
Entrez Id: 6908
Gene Symbol: TBP
TBP
0.100 Biomarker phenotype HPO
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 80725
Gene Symbol: SRCIN1
SRCIN1
0.010 Biomarker phenotype BEFREE SNIP was measured during upright sitting, induced forward head posture, and torticollis. 30112389 2018
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
0.100 Biomarker phenotype HPO
Entrez Id: 6342
Gene Symbol: SCP2
SCP2
0.100 Biomarker phenotype HPO
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
0.120 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: 8575
Gene Symbol: PRKRA
PRKRA
0.100 Biomarker phenotype HPO
Entrez Id: 25953
Gene Symbol: PNKD
PNKD
0.100 Biomarker phenotype HPO
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2
0.100 Biomarker phenotype HPO
Entrez Id: 91754
Gene Symbol: NEK9
NEK9
0.100 Biomarker phenotype HPO
Entrez Id: 8260
Gene Symbol: NAA10
NAA10
0.100 Biomarker phenotype HPO
Entrez Id: 4617
Gene Symbol: MYF5
MYF5
0.100 Biomarker phenotype HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.100 Biomarker phenotype HPO
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.100 Biomarker phenotype HPO