DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs879253954 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs879253954

PMP22

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

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

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

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

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

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

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

0.800

GeneticVariation

UNIPROT

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

10211478

1999

dbSNP:

rs879253954

PMP22

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

0.800

GeneticVariation

UNIPROT

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

9633821

1998

dbSNP:

rs879253954

PMP22

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

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

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

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

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

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

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

0.800

GeneticVariation

UNIPROT

Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.

9055797

1997

dbSNP:

rs879253954

PMP22

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

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

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

0.800

GeneticVariation

UNIPROT

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

8995589

1997

dbSNP:

rs879253954

PMP22

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

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

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

0.800

GeneticVariation

UNIPROT

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

7728152

1995

dbSNP:

rs879253954

PMP22

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

0.800

GeneticVariation

UNIPROT

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

7675244

1995

dbSNP:

rs879253954

PMP22

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

0.800

GeneticVariation

UNIPROT

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

8252046

1993

dbSNP:

rs879253954

PMP22

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

0.800

GeneticVariation

UNIPROT

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

8275092

1993

dbSNP:

rs879253954

PMP22

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs879253954

PMP22

CUI:	C3495591
Disease:	Charcot-Marie-Tooth Disease, Demyelinating, Type 1e

Charcot-Marie-Tooth Disease, Demyelinating, Type 1e

0.700

CausalMutation

CLINVAR

dbSNP:

rs879253954

PMP22

CUI:	C0007959
Disease:	Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease

0.010

GeneticVariation

BEFREE

Here, we studied the quality control mechanisms for the PMP22 mutants L16P and G150D, which were originally identified in mice and patients with CMT.

25385046

2014

dbSNP:

rs879253954

PMP22

CUI:	C0442874
Disease:	Neuropathy

Neuropathy

0.010

GeneticVariation

BEFREE

In Trembler mouse a Gly150Asp amino acid exchange in the peripheral myelin protein 22kDa (PMP22) gene was identified as causative reason for this hypertrophic neuropathy.

10959245

1998