DisGeNET - a database of gene-disease associations

Thymoma, C0040100

Variant: rs1057519704 ×

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:

rs1057519704

KIT

0.700

CausalMutation

CLINVAR

"When a thymic carcinoma ""becomes"" a GIST."

23375402

2013

dbSNP:

rs1057519704

KIT

0.700

CausalMutation

CLINVAR

Activating c-KIT mutations in a subset of thymic carcinoma and response to different c-KIT inhibitors.

22357254

2012

dbSNP:

rs1057519704

KIT

0.700

CausalMutation

CLINVAR

Impressive response with imatinib in a heavily pretreated patient with metastatic c-KIT mutated thymic carcinoma.

21969494

2011