Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.800 CausalMutation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.800 GeneticVariation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 GeneticVariation CLINVAR A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. 25380242

2015
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 GeneticVariation CLINVAR Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain. 25533456

2015
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 CausalMutation CLINVAR Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution. 25535305

2015
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 CausalMutation CLINVAR Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy. 24801232

2014
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 CausalMutation 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
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 CausalMutation CLINVAR Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. 23326386

2013
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 GeneticVariation 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
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 CausalMutation CLINVAR Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. 21280092

2011
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 CausalMutation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770

2010
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 CausalMutation CLINVAR Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. 20576434

2010
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 GeneticVariation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770

2010
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 GeneticVariation CLINVAR Autosomal recessive inheritance of classic Bethlem myopathy. 19884007

2009
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 GeneticVariation CLINVAR Collagen structure and stability. 19344236

2009
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 GeneticVariation CLINVAR Autosomal recessive Bethlem myopathy. 19949035

2009
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 CausalMutation CLINVAR Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. 19309692

2009
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 CausalMutation CLINVAR Autosomal recessive Bethlem myopathy. 19949035

2009
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 GeneticVariation CLINVAR Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. 18366090

2008
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 CausalMutation CLINVAR Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. 17785673

2007
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 GeneticVariation CLINVAR Molecular consequences of dominant Bethlem myopathy collagen VI mutations. 17886299

2007
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 GeneticVariation CLINVAR Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). 15689448

2005