DisGeNET - a database of gene-disease associations

Myopathies, Nemaline, C0206157

Variant: rs191579691 ×

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:

rs191579691

NEB

0.700

CausalMutation

CLINVAR

A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.

26197980

2016

dbSNP:

rs191579691

NEB

0.700

CausalMutation

CLINVAR

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.

25110572

2014

dbSNP:

rs191579691

NEB

0.700

CausalMutation

CLINVAR

Distal myopathy caused by homozygous missense mutations in the nebulin gene.

17525139

2007

dbSNP:

rs191579691

NEB

0.700

CausalMutation

CLINVAR

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

16917880

2006