DisGeNET - a database of gene-disease associations

Source: MGD

Disease: Hereditary hemorrhagic telangiectasia ×

Gene: ACVRL1 ×

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:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C0039445
Disease:	Hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia

0.600

Biomarker

MGD

A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2.

2003