DisGeNET - a database of gene-disease associations

rs1556880327, DMD

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.

Creatine phosphokinase serum increased

CUI:	C0241005
Disease:	Creatine phosphokinase serum increased

43

X

31774182

frameshift variant

-/T

delins

0.700

Progressive proximal muscle weakness

CUI:	C1836156
Disease:	Progressive proximal muscle weakness

3

X

31774182

frameshift variant

-/T

delins

0.700