Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		1.000 GeneticVariation UNIPROT Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). 15689448

2005
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		1.000 GeneticVariation UNIPROT Four splicing and four missense mutations were identified in 16 patients with BM, six of which are novel mutations in COL6A1. 15955946

2005
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		1.000 GeneticVariation UNIPROT Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138

2002
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		1.000 GeneticVariation UNIPROT Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. 8782832

1996
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Molecular consequences of dominant Bethlem myopathy collagen VI mutations. 17886299

2007
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). 15689448

2005
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. 10399756

1999
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. 9536084

1998
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 GeneticVariation UNIPROT 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 UNIPROT Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). 15689448

2005
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 GeneticVariation UNIPROT Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138

2002
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 GeneticVariation UNIPROT Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. 8782832

1996