DisGeNET - a database of gene-disease associations

BETHLEM MYOPATHY 1, C1834674

Variant: rs121912939 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121912939

COL6A1

0.800

CausalMutation

CLINVAR

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

27708273

2017

dbSNP:

rs121912939

COL6A1

0.800

CausalMutation

CLINVAR

Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.

28182637

2017

dbSNP:

rs121912939

COL6A1

0.800

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

dbSNP:

rs121912939

COL6A1

0.800

GeneticVariation

UNIPROT

Consensus statement on standard of care for congenital muscular dystrophies.

21078917

2010

dbSNP:

rs121912939

COL6A1

0.800

CausalMutation

CLINVAR

Collagen structure and stability.

19344236

2009

dbSNP:

rs121912939

COL6A1

0.800

CausalMutation

CLINVAR

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

18825676

2008

dbSNP:

rs121912939

COL6A1

0.800

GeneticVariation

UNIPROT

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.

15955946

2005

dbSNP:

rs121912939

COL6A1

0.800

CausalMutation

CLINVAR

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

15689448

2005

dbSNP:

rs121912939

COL6A1

0.800

GeneticVariation

UNIPROT

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

15689448

2005

dbSNP:

rs121912939

COL6A1

0.800

GeneticVariation

UNIPROT

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.

11865138

2002

dbSNP:

rs121912939

COL6A1

0.800

GeneticVariation

UNIPROT

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.

8782832

1996

dbSNP:

rs121912939

COL6A1

0.800

CausalMutation

CLINVAR

Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

7695699

1994

dbSNP:

rs121912939

COL6A1

0.800

CausalMutation

CLINVAR