rs1182, TOR1A

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.700 GeneticVariation GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
0.020 GeneticVariation BEFREE Stratification of patients based on age at the disease onset (≤ 30 years and > 30 years) showed statistically significant prevalence of the del-allele at the rs3842225 locus in Slavic patients with earlier age of onset of dystonia (36.96% vs. 21.39% in patients with late age of onset, p = 0.002) and an overrepresentation of the T-allele at the rs1182 locus (36.96% vs. 21.69%, p = 0.003). 25203860 2015
Dystonia
CUI: C0013421
Disease: Dystonia
0.020 GeneticVariation BEFREE Stratification of patients based on age at the disease onset (≤ 30 years and > 30 years) showed statistically significant prevalence of the del-allele at the rs3842225 locus in Slavic patients with earlier age of onset of dystonia (36.96% vs. 21.39% in patients with late age of onset, p = 0.002) and an overrepresentation of the T-allele at the rs1182 locus (36.96% vs. 21.69%, p = 0.003). 25203860 2015
Dystonia
CUI: C0013421
Disease: Dystonia
0.020 GeneticVariation BEFREE In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele. 19202559 2009
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
0.020 GeneticVariation BEFREE In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele. 19202559 2009
Focal Dystonia
CUI: C0743332
Disease: Focal Dystonia
0.010 GeneticVariation 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
Organic writer's cramp
CUI: C0154676
Disease: Organic writer's cramp
0.010 GeneticVariation 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
Writer's Cramp
CUI: C4316810
Disease: Writer's Cramp
0.010 GeneticVariation 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
Segmental dystonia
CUI: C1997740
Disease: Segmental dystonia
0.010 GeneticVariation BEFREE We analyzed associations between rs3842225 and rs1182 polymorphisms in TOR1A and focal/segmental dystonia in 254 patients from Russian population, including 218 Slavic patients and 36 patients of mixed ethnic background. 25203860 2015
Dystonia, Primary
CUI: C0752203
Disease: Dystonia, Primary
0.010 GeneticVariation BEFREE Association of rs1182 polymorphism of the DYT1 gene with primary dystonia in Chinese population. 23058565 2012
Benign essential blepharospasm
CUI: C2930898
Disease: Benign essential blepharospasm
0.010 GeneticVariation BEFREE The relationship between rs1182 polymorphism and spread was estimated by Kaplan-Meier survival curves and Cox proportional hazard regression models adjusted by age and sex, age of BSP onset. 19202559 2009