ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: Epistaxis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014591
Disease: Epistaxis
Epistaxis 		0.400 Biomarker phenotype GENOMICS_ENGLAND Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. 14684682 2003
CUI: C0014591
Disease: Epistaxis
Epistaxis 		0.400 CausalMutation phenotype CLINVAR
CUI: C0014591
Disease: Epistaxis
Epistaxis 		0.400 Biomarker phenotype HPO