DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Hereditary Nonpolyposis Colorectal Cancer ×

Gene: TGFBR2 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C1333990
Disease:	Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Cancer

0.600

Biomarker

CTD_human

HNPCC associated with germline mutation in the TGF-beta type II receptor gene.

9590282

1998

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C1333990
Disease:	Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Cancer

0.600

GeneticVariation

ORPHANET