DisGeNET - a database of gene-disease associations

Dejerine-Sottas Disease (disorder), C0011195

Variant: rs775019409 ×

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:

rs775019409

PMP22

0.710

GeneticVariation

BEFREE

The Ser149Arg mutation of peripheral myelin protein 22 (PMP22) was found in a 19-year-old woman with a sporadic case of Dejerine-Sottas disease.

10663978

2000

dbSNP:

rs775019409

PMP22

0.710

GeneticVariation

UNIPROT