DisGeNET - a database of gene-disease associations

Mucocutaneous Lymph Node Syndrome, C0026691

Variant: rs12901071 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs12901071

rs12901071

SMAD3

0.010

GeneticVariation

BEFREE

Additionally, Smad3 gene polymorphism (rs12901071) is well known to be associated with KD patients.

2014