DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Bone Diseases ×

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:	C0005940
Disease:	Bone Diseases

Bone Diseases

0.300

Biomarker

CTD_human

Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.

2010