DisGeNET - a database of gene-disease associations

Source: CURATED

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

Gene: PMP22 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5376
Gene Symbol:	PMP22

PMP22

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

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

0.920

GeneticVariation

UNIPROT

A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.

15099592

2004

Entrez Id:	5376
Gene Symbol:	PMP22

PMP22

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

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

0.920

GeneticVariation

UNIPROT

Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene.

12578939

2003

Entrez Id:	5376
Gene Symbol:	PMP22

PMP22

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

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

0.920

GeneticVariation

UNIPROT

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

11835375

2002

Entrez Id:	5376
Gene Symbol:	PMP22

PMP22

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

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

0.920

GeneticVariation

UNIPROT

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

10330345

1999

Entrez Id:	5376
Gene Symbol:	PMP22

PMP22

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

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

0.920

Biomarker

CTD_human

Entrez Id:	5376
Gene Symbol:	PMP22

PMP22

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

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

0.920

Biomarker

GENOMICS_ENGLAND

Entrez Id:	5376
Gene Symbol:	PMP22

PMP22

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

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

0.920

Biomarker

GENOMICS_ENGLAND

Entrez Id:	5376
Gene Symbol:	PMP22

PMP22

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

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

0.920

Biomarker

GENOMICS_ENGLAND