DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: PULMONARY HYPERTENSION, PRIMARY, 3 ×

Gene: CAV1 ×

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:	857
Gene Symbol:	CAV1

CAV1

CUI:	C3809192
Disease:	PULMONARY HYPERTENSION, PRIMARY, 3

PULMONARY HYPERTENSION, PRIMARY, 3

0.400

Biomarker

GENOMICS_ENGLAND

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

29650961

2018

Entrez Id:	857
Gene Symbol:	CAV1

CAV1

CUI:	C3809192
Disease:	PULMONARY HYPERTENSION, PRIMARY, 3

PULMONARY HYPERTENSION, PRIMARY, 3

0.400

Biomarker

GENOMICS_ENGLAND