DisGeNET - a database of gene-disease associations

Medulloblastoma, C0025149

Variant: rs17710891 ×

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:

rs17710891

rs17710891

SMO

C

0.700

CausalMutation

CLINVAR

Vismodegib.

2012

dbSNP:

rs17710891

rs17710891

SMO

C

0.700

CausalMutation

CLINVAR

Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma.

2009