Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3 		0.720 GeneticVariation disease BEFREE Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia). 29066004 2018
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3 		0.720 GeneticVariation disease BEFREE The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27). 26687111 2016
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3 		0.720 GermlineCausalMutation disease ORPHANET Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199 2015
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3 		0.720 GeneticVariation disease UNIPROT Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199 2015
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. 11992252 2002
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3 		0.720 GeneticVariation disease CLINVAR
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3 		0.720 CausalMutation disease CLINVAR