DisGeNET - a database of gene-disease associations

rs104894706, PRX

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 4F

CUI:	C3540453
Disease:	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F

8

0.925

0.080

19

40397766

stop gained

G/A;C;T

snv

0.700

Charcot-Marie-Tooth Disease

CUI:	C0007959
Disease:	Charcot-Marie-Tooth Disease

136

0.925

0.080

19

40397766

stop gained

G/A;C;T

snv

0.010

1.000

2001

2001