DisGeNET - a database of gene-disease associations

Adenoid Cystic Carcinoma, C0010606

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:

rs28934874

TP53

0.700

GeneticVariation

CLINVAR

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

26619011

2016

dbSNP:

rs397516436

TP53

0.700

GeneticVariation

CLINVAR

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

26619011

2016

dbSNP:

rs398124146

CREBBP

0.700

GeneticVariation

CLINVAR

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

26619011

2016

dbSNP:

rs398124146

CREBBP

0.700

GeneticVariation

CLINVAR

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

26619011

2016

dbSNP:

rs587778720

TP53

0.700

GeneticVariation

CLINVAR

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

26619011

2016

dbSNP:

rs587778720

TP53

0.700

GeneticVariation

CLINVAR

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

26619011

2016

dbSNP:

rs587778720

TP53

0.700

GeneticVariation

CLINVAR

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

26619011

2016

dbSNP:

rs775623976

SF3B1

0.700

GeneticVariation

CLINVAR

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

26619011

2016

dbSNP:

rs775623976

SF3B1

0.700

GeneticVariation

CLINVAR

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

26619011

2016

dbSNP:

rs867384286

FBXW7

0.700

GeneticVariation

CLINVAR

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

26619011

2016

dbSNP:

rs867384286

FBXW7

0.700

GeneticVariation

CLINVAR

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

26619011

2016

dbSNP:

rs121913530

KRAS

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554728034

NOTCH1

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1554728658

NOTCH1

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1555155110

ARID2 ; LOC105369745

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1555913337

BCOR

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1555919960

BCOR

CGT

0.700

GeneticVariation

CLINVAR

dbSNP:

rs780712297

BCOR

0.700

GeneticVariation

CLINVAR

dbSNP:

rs121908390

CYLD ; LOC105371251

0.010

GeneticVariation

BEFREE

In only one cylindroma we detected the same germline mutation (c.2070delT/p.F690FfsX3) in addition to two somatic events (I645V and R936X).

25131725

2015

dbSNP:

rs587778223

CYLD ; LOC105371251

0.010

GeneticVariation

BEFREE

In only one cylindroma we detected the same germline mutation (c.2070delT/p.F690FfsX3) in addition to two somatic events (I645V and R936X).

25131725

2015

dbSNP:

rs121913529

KRAS

0.010

GeneticVariation

BEFREE

KRAS mutation analysis was performed by direct genomic sequencing and revealed a KRAS wildtype in 98.5% except of one adenoid cystic carcinoma with a GGT-GAT transition at codon 12 (Gly12Asp).

19362042

2009