DisGeNET - a database of gene-disease associations

TGFBR2, transforming growth factor beta receptor 2, 7048

N. diseases: 502; N. variants: 76

Disease: Esophageal Neoplasms ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0014859
Disease:	Esophageal Neoplasms

Esophageal Neoplasms

0.500

Biomarker

group

CTD_human

A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma.

10789724

2000

CUI:	C0014859
Disease:	Esophageal Neoplasms

Esophageal Neoplasms

0.500

CausalMutation

group

CGI