DisGeNET - a database of gene-disease associations

NEUROBLASTOMA, SUSCEPTIBILITY TO, 3, C2751681

Variant: rs113994091 ×

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:

rs113994091

ALK

0.800

GeneticVariation

UNIPROT

The constitutive activity of the ALK mutated at positions F1174 or R1275 impairs receptor trafficking.

21242967

2011

dbSNP:

rs113994091

ALK

0.800

GeneticVariation

UNIPROT

Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma.

18923523

2008

dbSNP:

rs113994091

ALK

0.800

GeneticVariation

UNIPROT

Identification of ALK as a major familial neuroblastoma predisposition gene.

18724359

2008

dbSNP:

rs113994091

ALK

0.800

GeneticVariation

UNIPROT

Activating mutations in ALK provide a therapeutic target in neuroblastoma.

18923525

2008

dbSNP:

rs113994091

ALK

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs113994091

ALK

0.800

CausalMutation

CLINVAR