DisGeNET - a database of gene-disease associations

Source: ANIMAL_MODELS

Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder) ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	5376
Gene Symbol:	PMP22

PMP22

peripheral myelin protein 22

0.471

0.885

0.91

CUI:	C0270911
Disease:	Charcot-Marie-Tooth Disease, Type Ia (disorder)

Charcot-Marie-Tooth Disease, Type Ia (disorder)

disease

1.000

None

1.000

0

1992

2020