DisGeNET - a database of gene-disease associations

BETHLEM MYOPATHY 1, C1834674

Variant: rs747900252 ×

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:

rs747900252

COL6A2

0.700

CausalMutation

CLINVAR

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

25535305

2015

dbSNP:

rs747900252

COL6A2

0.700

CausalMutation

CLINVAR

Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.

21280092

2011

dbSNP:

rs747900252

COL6A2

0.700

CausalMutation

CLINVAR

Early onset collagen VI myopathies: Genetic and clinical correlations.

20976770

2010

dbSNP:

rs747900252

COL6A2

0.700

CausalMutation

CLINVAR

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.

20576434

2010

dbSNP:

rs747900252

COL6A2

0.700

CausalMutation

CLINVAR

Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.

19309692

2009