DisGeNET - a database of gene-disease associations

Dejerine-Sottas Disease (disorder), C0011195

Variant: rs879253954 ×

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:

rs879253954

PMP22

0.800

GeneticVariation

UNIPROT

Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.

12090401

2002

dbSNP:

rs879253954

PMP22

0.800

GeneticVariation

UNIPROT

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.

11438991

2001

dbSNP:

rs879253954

PMP22

0.800

GeneticVariation

UNIPROT

Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22.

10663978

2000

dbSNP:

rs879253954

PMP22

0.800

GeneticVariation

UNIPROT

Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.

10211478

1999

dbSNP:

rs879253954

PMP22

0.800

GeneticVariation

UNIPROT

Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

9633821

1998

dbSNP:

rs879253954

PMP22

0.800

GeneticVariation

UNIPROT

"Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible ""hot spot"" on Ser72."

9585367

1998

dbSNP:

rs879253954

PMP22

0.800

GeneticVariation

UNIPROT

Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease.

9544841

1998

dbSNP:

rs879253954

PMP22

0.800

GeneticVariation

UNIPROT

Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.

9452053

1998

dbSNP:

rs879253954

PMP22

0.800

GeneticVariation

UNIPROT

Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.

9055797

1997

dbSNP:

rs879253954

PMP22

0.800

GeneticVariation

UNIPROT

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

9187667

1997

dbSNP:

rs879253954

PMP22

0.800

GeneticVariation

UNIPROT

Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.

8995589

1997

dbSNP:

rs879253954

PMP22

0.800

GeneticVariation

UNIPROT

Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.

9004143

1996

dbSNP:

rs879253954

PMP22

0.800

GeneticVariation

UNIPROT

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.

7728152

1995

dbSNP:

rs879253954

PMP22

0.800

GeneticVariation

UNIPROT

Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene.

7675244

1995

dbSNP:

rs879253954

PMP22

0.800

GeneticVariation

UNIPROT

Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.

8252046

1993

dbSNP:

rs879253954

PMP22

0.800

GeneticVariation

UNIPROT

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.

8275092

1993

dbSNP:

rs879253954

PMP22

0.800

CausalMutation

CLINVAR