DisGeNET - a database of gene-disease associations

NONAKA MYOPATHY, C1853926

Variant: rs1236647498 ×

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:

rs1236647498

CLTA ; GNE

0.700

GeneticVariation

CLINVAR

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.

27858732

2015

dbSNP:

rs1236647498

CLTA ; GNE

0.700

GeneticVariation

CLINVAR

Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.

25986339

2015

dbSNP:

rs1236647498

CLTA ; GNE

0.700

GeneticVariation

CLINVAR

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).

24027297

2014

dbSNP:

rs1236647498

CLTA ; GNE

0.700

GeneticVariation

CLINVAR

GNE myopathy in India.

24005727

2014