DisGeNET - a database of gene-disease associations

Gene: EPAS1 ×

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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:	2034
Gene Symbol:	EPAS1

EPAS1

CUI:	C3203102
Disease:	Idiopathic pulmonary arterial hypertension

Idiopathic pulmonary arterial hypertension

0.320

Biomarker

GENOMICS_ENGLAND

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.

2008