DisGeNET - a database of gene-disease associations

ENG, endoglin, 2022

N. diseases: 371; N. variants: 114

Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1 ×

Variant: rs878853659 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs878853659

0.925

0.120

127843246

splice acceptor variant

C/T

snv

CUI:	C4551861
Disease:	Telangiectasia, Hereditary Hemorrhagic, Type 1

Telangiectasia, Hereditary Hemorrhagic, Type 1

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases

0.700