ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307404
rs1085307404
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		G 0.700 CausalMutation CLINVAR Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. 20056902 2010
dbSNP: rs1085307404
rs1085307404
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		G 0.700 CausalMutation CLINVAR Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. 11484689 2001