DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Dejerine-Sottas Disease (disorder) ×

Gene: PMP22 ×

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

CausalMutation

CLINVAR

dbSNP:

rs775019409

PMP22

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

Dejerine-Sottas Disease (disorder)

0.710

GeneticVariation

UNIPROT

dbSNP:

rs28936682

PMP22

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

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:

rs104894621

PMP22

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

Dejerine-Sottas Disease (disorder)

0.720

GeneticVariation

UNIPROT

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

8252046

1993

dbSNP:

rs104894621

PMP22

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

Dejerine-Sottas Disease (disorder)

0.720

GeneticVariation

UNIPROT

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

8275092

1993

dbSNP:

rs104894624

PMP22

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

Dejerine-Sottas Disease (disorder)

0.710

GeneticVariation

UNIPROT

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

8275092

1993

dbSNP:

rs104894624

PMP22

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

Dejerine-Sottas Disease (disorder)

0.710

GeneticVariation

UNIPROT

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

8252046

1993

dbSNP:

rs104894622

PMP22

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

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

8275092

1993

dbSNP:

rs104894622

PMP22

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

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

8252046

1993

dbSNP:

rs104894620

PMP22

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

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

8252046

1993

dbSNP:

rs104894620

PMP22

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

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

8275092

1993

dbSNP:

rs104894617

PMP22

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

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

8252046

1993

dbSNP:

rs104894617

PMP22

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

Dejerine-Sottas Disease (disorder)

0.700

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

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:

rs104894621

PMP22

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

Dejerine-Sottas Disease (disorder)

0.720

GeneticVariation

UNIPROT

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

7675244

1995

dbSNP:

rs104894621

PMP22

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

Dejerine-Sottas Disease (disorder)

0.720

GeneticVariation

UNIPROT

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

7728152

1995

dbSNP:

rs104894624

PMP22

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

Dejerine-Sottas Disease (disorder)

0.710

GeneticVariation

UNIPROT

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

7728152

1995

dbSNP:

rs104894624

PMP22

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

Dejerine-Sottas Disease (disorder)

0.710

GeneticVariation

UNIPROT

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

7675244

1995

dbSNP:

rs104894622

PMP22

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

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

7675244

1995

dbSNP:

rs104894622

PMP22

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

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

7728152

1995

dbSNP:

rs104894620

PMP22

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

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

7675244

1995

dbSNP:

rs104894620

PMP22

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

Dejerine-Sottas Disease (disorder)

0.700

GeneticVariation

UNIPROT

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

7728152

1995