DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Hereditary Motor and Sensory Neuropathy Type I ×

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:	C0751036
Disease:	Hereditary Motor and Sensory Neuropathy Type I

Hereditary Motor and Sensory Neuropathy Type I

0.500

Biomarker

CTD_human

Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.

19427269

2009

Entrez Id:	5376
Gene Symbol:	PMP22

PMP22

CUI:	C0751036
Disease:	Hereditary Motor and Sensory Neuropathy Type I

Hereditary Motor and Sensory Neuropathy Type I

0.500

Biomarker

CTD_human

Myoclonic seizures in a patient with Charcot-Marie-tooth disease.

17275665

2007

Entrez Id:	5376
Gene Symbol:	PMP22

PMP22

CUI:	C0751036
Disease:	Hereditary Motor and Sensory Neuropathy Type I

Hereditary Motor and Sensory Neuropathy Type I

0.500

Biomarker

CTD_human

Ascorbic acid inhibits PMP22 expression by reducing cAMP levels.

17303424

2007