DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Medulloblastoma ×

Variant: rs121913400 ×

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:

rs121913400

CTNNB1

CUI:	C0025149
Disease:	Medulloblastoma

Medulloblastoma

0.810

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs121913400

CTNNB1

CUI:	C0025149
Disease:	Medulloblastoma

Medulloblastoma

0.810

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs121913400

CTNNB1

CUI:	C0025149
Disease:	Medulloblastoma

Medulloblastoma

0.810

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs121913400

CTNNB1

CUI:	C0025149
Disease:	Medulloblastoma

Medulloblastoma

0.810

GeneticVariation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs121913400

CTNNB1

CUI:	C0025149
Disease:	Medulloblastoma

Medulloblastoma

0.810

GeneticVariation

UNIPROT

Identification of two novel regulated serines in the N terminus of beta-catenin.

12027456

2002

dbSNP:

rs121913400

CTNNB1

CUI:	C0025149
Disease:	Medulloblastoma

Medulloblastoma

0.810

GeneticVariation

UNIPROT

APC mutations in sporadic medulloblastomas.

10666372

2000

dbSNP:

rs121913400

CTNNB1

CUI:	C0025149
Disease:	Medulloblastoma

Medulloblastoma

0.810

CausalMutation

CLINVAR