DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Uranostaphyloschisis ×

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:	C2981150
Disease:	Uranostaphyloschisis

Uranostaphyloschisis

0.110

CausalMutation

CLINVAR

Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

28344185

2017

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C2981150
Disease:	Uranostaphyloschisis

Uranostaphyloschisis

0.110

Biomarker

BEFREE

Cleft palate in Tgfbr2 mutant mice results from a cell proliferation defect within the CNC-derived palatal mesenchyme.

12975342

2003