DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Dejerine-Sottas Disease (disorder) ×

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:

rs104894826

GJB1

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

Dejerine-Sottas Disease (disorder)

0.800

GeneticVariation

UNIPROT

Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.

15947997

2005

dbSNP:

rs121913586

MPZ

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

Dejerine-Sottas Disease (disorder)

0.810

GeneticVariation

UNIPROT

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

12497641

2003

dbSNP:

rs1553259707

MPZ

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

Dejerine-Sottas Disease (disorder)

0.710

GeneticVariation

UNIPROT

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

12497641

2003

dbSNP:

rs121913590

MPZ

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

Dejerine-Sottas Disease (disorder)

0.710

GeneticVariation

UNIPROT

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

12497641

2003

dbSNP:

rs121913585

MPZ

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

Dejerine-Sottas Disease (disorder)

0.710

GeneticVariation

UNIPROT

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

12497641

2003

dbSNP:

rs879253858

MPZ

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

12497641

2003

dbSNP:

rs281865127

MPZ

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

12497641

2003

dbSNP:

rs267607243

MPZ

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

12497641

2003

dbSNP:

rs267607242

MPZ

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

12497641

2003

dbSNP:

rs267607241

MPZ

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

12497641

2003

dbSNP:

rs121913586

MPZ

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

Dejerine-Sottas Disease (disorder)

0.810

GeneticVariation

UNIPROT

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

11835375

2002

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:

rs104894621

PMP22

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

Dejerine-Sottas Disease (disorder)

0.720

GeneticVariation

UNIPROT

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

12090401

2002

dbSNP:

rs1553259707

MPZ

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

Dejerine-Sottas Disease (disorder)

0.710

GeneticVariation

UNIPROT

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

11835375

2002

dbSNP:

rs121913590

MPZ

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

Dejerine-Sottas Disease (disorder)

0.710

GeneticVariation

UNIPROT

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

11835375

2002

dbSNP:

rs121913585

MPZ

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

Dejerine-Sottas Disease (disorder)

0.710

GeneticVariation

UNIPROT

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

11835375

2002

dbSNP:

rs104894624

PMP22

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

Dejerine-Sottas Disease (disorder)

0.710

GeneticVariation

UNIPROT

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

12090401

2002

dbSNP:

rs879253858

MPZ

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

11835375

2002

dbSNP:

rs281865127

MPZ

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

11835375

2002

dbSNP:

rs267607243

MPZ

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

11835375

2002

dbSNP:

rs267607242

MPZ

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

11835375

2002

dbSNP:

rs267607241

MPZ

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

11835375

2002

dbSNP:

rs104894622

PMP22

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

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

12090401

2002

dbSNP:

rs104894620

PMP22

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

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

12090401

2002

dbSNP:

rs104894617

PMP22

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

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

12090401

2002