DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Acute Inflammatory Demyelinating Polyneuropathy ×

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:	C4551910
Disease:	Acute Inflammatory Demyelinating Polyneuropathy

Acute Inflammatory Demyelinating Polyneuropathy

0.520

SusceptibilityMutation

ORPHANET

Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.

12439896

2002

Entrez Id:	5376
Gene Symbol:	PMP22

PMP22

CUI:	C4551910
Disease:	Acute Inflammatory Demyelinating Polyneuropathy

Acute Inflammatory Demyelinating Polyneuropathy

0.520

Biomarker

CTD_human