DisGeNET - a database of gene-disease associations

MSH5-SAPCD1, MSH5-SAPCD1 readthrough (NMD candidate), 100532732

N. diseases: 21; N. variants: 23

Disease: Myasthenia Gravis ×

Variant: rs3131379 ×

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:

rs3131379

rs3131379

Entrez Id:	4439;100532732
Gene Symbol:	MSH5;MSH5-SAPCD1

MSH5;MSH5-SAPCD1

CUI:	C0026896
Disease:

Myasthenia Gravis

0.700

GeneticVariation

GWASDB

Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.

2012