Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2774
Gene Symbol: GNAL
GNAL
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias 		0.310 GeneticVariation BEFREE Mutations in GNAL (DYT25) have recently been established as the first confirmed cause of focal or segmental adult-onset dystonia. 24729450

2014
Entrez Id: 2774
Gene Symbol: GNAL
GNAL
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias 		0.310 Biomarker CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958

2013
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias 		0.310 Biomarker CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958

2013
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias 		0.310 GeneticVariation BEFREE We propose that differential pathophysiological and compensatory mechanisms lead to brain structure changes in non-DYT1 primary adult-onset dystonias and DYT1 gene carriers. 19344776

2009
Entrez Id: 55145
Gene Symbol: THAP1
THAP1
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias 		0.300 Biomarker CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958

2013
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias 		0.300 Biomarker CTD_human DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. 18243799

2008
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias 		0.300 Biomarker CTD_human Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. 17438226

2007
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias 		0.300 Biomarker CTD_human Hyperekplexia phenotype of glycine receptor alpha1 subunit mutant mice identifies Zn(2+) as an essential endogenous modulator of glycinergic neurotransmission. 17114051

2006
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias 		0.300 Biomarker CTD_human

Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias 		0.010 GeneticVariation BEFREE BDNF Val66Met polymorphism in primary adult-onset dystonia: a case-control study and meta-analysis. 24925604

2014
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias 		0.010 GeneticVariation BEFREE Mutations in THAP1 and CIZ1 have been associated with sporadic and familial adult-onset dystonia. 22989765

2012