COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 156; N. variants: 57
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.720 GeneticVariation disease BEFREE Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia). 29066004 2018
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.720 GeneticVariation disease BEFREE The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27). 26687111 2016
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.720 GermlineCausalMutation disease ORPHANET Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199 2015
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.720 GeneticVariation disease UNIPROT Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199 2015
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.720 Biomarker disease GENOMICS_ENGLAND Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. 11992252 2002
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.720 GeneticVariation disease CLINVAR
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.720 CausalMutation disease CLINVAR