Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.500 GeneticVariation disease BEFREE Our meta-analysis revealed a significant implication of rs1182 and rs1801968 TOR1A variants in the development of focal dystonia and writer's cramp respectively. 28081261 2017
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.500 Biomarker disease CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.500 GeneticVariation disease BEFREE We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. 19441135 2009
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.500 Biomarker disease BEFREE The following groups of patients were included in the study: 1) patients with early-onset (<30 years) generalized dystonia and those patients with onset after age 30 years who have relatives with early-onset dystonia, 2) patients with writer's cramp (focal or as part of segmental dystonia) independently of age of onset, 3) asymptomatic (adult only) relatives of the diagnosed DYT1 carriers. 18224570 2008
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.500 GeneticVariation disease BEFREE Writer's cramp in an Australian pedigree with DYT1 dystonia. 15177405 2004
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.500 GeneticVariation disease BEFREE Analysis of 83 published series including 5,057 patients indicated significant differences in the mean age at onset of five phenotypes of PTD (mean age at onset; 95% CI): DYT1 dystonia (11.3 years; 10.3 to 12.2), writer's cramp (38.4; 36.9 to 39.9), CD (40.8; 40.3 to 41.3), spasmodic dysphonia (43.0; 42.2 to 43.9), and blepharospasm-oromandibular dystonia (55.7; 55.1 to 56.4). 15505159 2004
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.500 GeneticVariation disease BEFREE To determine the frequency of this mutation in a larger series of patients, we examined 44 index patients with sporadic or familial (seven patients) writer's cramp for the presence of the DYT1 GAG deletion, including eight patients with segmental dystonia involving at least one upper limb. 11104212 2000
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.500 GeneticVariation disease BEFREE The GAG deletion in the DYT1 gene was excluded in the proband and in the family member affected by writer's cramp. 10495044 1999
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.500 Biomarker disease BEFREE We demonstrate that writer's cramp or focal cervical dystonia is a clinical presentation of DYT1 as well as generalized dystonia. 10225357 1999
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.500 GeneticVariation disease BEFREE Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset. 9667600 1998
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.500 GeneticVariation disease BEFREE Genetic haplotypes at five marker loci that are closely linked to the DYT1 gene on chromosome 9q were determined in 10 Ashkenazi Jewish patients with focal hand dystonia (eight with musician's cramp, two with writer's cramp). 8684386 1996
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.500 Biomarker disease HPO
Entrez Id: 55145
Gene Symbol: THAP1
THAP1
0.400 Biomarker disease CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
Entrez Id: 55145
Gene Symbol: THAP1
THAP1
0.400 Biomarker disease HPO
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA
0.310 GeneticVariation disease BEFREE We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. 19441135 2009
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA
0.310 Biomarker disease 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: 2774
Gene Symbol: GNAL
GNAL
0.300 Biomarker disease CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
0.300 Biomarker disease CTD_human Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. 17438226 2007
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1
0.300 Biomarker disease 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
0.300 Biomarker disease CTD_human
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
0.130 GeneticVariation disease BEFREE In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers. 19441135 2009
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
0.130 Biomarker disease BEFREE In children with writer's cramp screening of the SGCE gene should be considered, even with a negative family history. 18571946 2009
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
0.130 GeneticVariation disease BEFREE Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp. 18702114 2008
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
0.130 Biomarker disease HPO
Entrez Id: 1813
Gene Symbol: DRD2
DRD2
0.110 Biomarker disease BEFREE Therefore DRD2/ANKK1-Taq1A gene is not a significant risk factor in the evolution of writer's cramp. 27696930 2017