DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Hypertensive disease ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C0020538
Disease:	Hypertensive disease

Hypertensive disease

0.010

GeneticVariation

BEFREE

ABCA3 mutations led to pulmonary fibrosis and emphysema with pulmonary hypertension in an 8-year-old girl.

2016