Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 857
Gene Symbol: CAV1
CAV1
Familial primary pulmonary hypertension
0.640 Biomarker GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961

2018

Entrez Id: 857
Gene Symbol: CAV1
CAV1
Familial primary pulmonary hypertension
0.640 GermlineCausalMutation ORPHANET Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. 22474227

2012

Entrez Id: 857
Gene Symbol: CAV1
CAV1
Familial primary pulmonary hypertension
0.640 Biomarker CTD_human