DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Hereditary hemorrhagic telangiectasia ×

Gene: ENG ×

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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

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	2022
Gene Symbol:	ENG

ENG

endoglin

0.446

0.846

1.00

CUI:	C0039445
Disease:	Hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia

disease

1.000

definitive

0.991

0

1994

2019