DisGeNET - a database of gene-disease associations

SPEG, striated muscle enriched protein kinase, 10290

N. diseases: 52; N. variants: 10

Disease: MYOPATHY, CENTRONUCLEAR, 5 ×

Variant: rs587777675 ×

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

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587777675

rs587777675

Entrez Id:	10290
Gene Symbol:	SPEG

SPEG

CUI:	C4014814
Disease:

MYOPATHY, CENTRONUCLEAR, 5

A

0.700

CausalMutation

CLINVAR