COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 156; N. variants: 57
Disease: Dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia 		0.340 GeneticVariation phenotype BEFREE Diffusion tensor imaging demonstrates an altered white matter structure especially in various parts of the cerebello-thalamo-cortical network in dystonia patients with COL6A3 mutations. 29066004 2018
CUI: C0013421
Disease: Dystonia
Dystonia 		0.340 GeneticVariation phenotype BEFREE In an attempt to replicate these findings, we assessed by direct sequencing the frequency of rare variants in Exons 41 and 42 of COL6A3 in 955 patients with isolated or combined dystonia or with another movement disorder with dystonic features. 26872670 2016
CUI: C0013421
Disease: Dystonia
Dystonia 		0.340 Biomarker phenotype BEFREE COL6A3-associated dystonia represents a newly identified autosomal-recessive entity characterized clinically by an early symptom onset with variable distribution.© 2015 Movement Disorder Society. 26687111 2016
CUI: C0013421
Disease: Dystonia
Dystonia 		0.340 Biomarker phenotype BEFREE This includes the first two genes linked to recessively inherited isolated dystonia, that is, HPCA (hippocalcin) and COL6A3 (collagen VI alpha 3). 26991507 2016
CUI: C0013421
Disease: Dystonia
Dystonia 		0.340 Biomarker phenotype CTD_human