DisGeNET - a database of gene-disease associations

COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 156; N. variants: 57

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121434553

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.800

GeneticVariation

UNIPROT

dbSNP:

rs121434555

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.800

GeneticVariation

UNIPROT

Consensus statement on standard of care for congenital muscular dystrophies.

21078917

2010

dbSNP:

rs794727188

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.800

GeneticVariation

UNIPROT

Consensus statement on standard of care for congenital muscular dystrophies.

21078917

2010

dbSNP:

rs112638391

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C0410179
Disease:

Ullrich congenital muscular dystrophy 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs114284669

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs11903206

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

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

dbSNP:

rs11903206

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

GeneticVariation

UNIPROT

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

15689448

2005

dbSNP:

rs11903206

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

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

dbSNP:

rs11903206

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

GeneticVariation

UNIPROT

Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

17886299

2007

dbSNP:

rs138049094

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

GeneticVariation

UNIPROT

Consensus statement on standard of care for congenital muscular dystrophies.

21078917

2010

dbSNP:

rs138049094

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

GeneticVariation

UNIPROT

Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

17886299

2007

dbSNP:

rs138049094

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

GeneticVariation

UNIPROT

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

15689448

2005

dbSNP:

rs138049094

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

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

dbSNP:

rs138049094

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

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

dbSNP:

rs146092501

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

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

dbSNP:

rs146092501

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

GeneticVariation

UNIPROT

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

15689448

2005

dbSNP:

rs146092501

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

GeneticVariation

UNIPROT

Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

17886299

2007

dbSNP:

rs146092501

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

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

dbSNP:

rs182976977

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C4225336
Disease:

DYSTONIA 27

0.700

GeneticVariation

UNIPROT

Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

26004199

2015

dbSNP:

rs200478135

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

GeneticVariation

UNIPROT

Consensus statement on standard of care for congenital muscular dystrophies.

21078917

2010

dbSNP:

rs2645775

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C0042834
Disease:

Vital capacity

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs35227432

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

GeneticVariation

UNIPROT

Consensus statement on standard of care for congenital muscular dystrophies.

21078917

2010

dbSNP:

rs35227432

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

GeneticVariation

UNIPROT

Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

17886299

2007

dbSNP:

rs35227432

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

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

dbSNP:

rs35227432

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C1834674
Disease:

BETHLEM MYOPATHY 1

0.700

GeneticVariation

UNIPROT

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

15689448

2005