Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | CausalMutation | phenotype | CLINVAR | Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. | 25204870 | 2015 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain. | 25533456 | 2015 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy. | 23564457 | 2013 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. | 24038877 | 2013 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy. | 22426012 | 2012 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Early onset collagen VI myopathies: Genetic and clinical correlations. | 20976770 | 2010 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Autosomal recessive Bethlem myopathy. | 19949035 | 2009 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Autosomal recessive myosclerosis myopathy is a collagen VI disorder. | 18852439 | 2008 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. | 15689448 | 2005 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. | 11865138 | 2002 |