DisGeNET - a database of gene-disease associations

BETHLEM MYOPATHY 1, C1834674

Variant: rs121912935 ×

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:

rs121912935

COL6A1

0.800

GeneticVariation

UNIPROT

Consensus statement on standard of care for congenital muscular dystrophies.

21078917

2010

dbSNP:

rs121912935

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:

rs121912935

COL6A1

0.800

GeneticVariation

UNIPROT

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

15955946

2005

dbSNP:

rs121912935

COL6A1

0.800

GeneticVariation

UNIPROT

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

11865138

2002

dbSNP:

rs121912935

COL6A1

0.800

GeneticVariation

UNIPROT

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

8782832

1996

dbSNP:

rs121912935

COL6A1

0.800

CausalMutation

CLINVAR

dbSNP:

rs121912935

COL6A1

0.800

CausalMutation

CLINVAR