DisGeNET - a database of gene-disease associations

rs797044846, PMP22

N. diseases: 2

Source: ALL

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

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

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

7

0.925

0.160

17

15259155

stop gained

C/G;T

snv

0.700

Charcot-Marie-Tooth Disease

CUI:	C0007959
Disease:	Charcot-Marie-Tooth Disease

136

0.925

0.160

17

15259155

stop gained

C/G;T

snv

0.010

1.000

2012

2012