ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1700159
rs1700159
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C0013595
Disease:
Eczema 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs863223408
rs863223408
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C0014591
Disease:
Epistaxis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121909284
rs121909284
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C0085580
Disease:
Essential Hypertension 		0.010 GeneticVariation BEFREE To study the association between single nucleotide polymorphisms (SNPs) of the rs6435156 and rs1048829 loci of the bone morphogenetic protein receptor type 2 (BMPR2) gene, the rs121909287 and rs121909284 loci of the activin receptor-like kinase 1 (ACVRL1) gene, and the rs397514716 and rs121918359 loci of the mothers against decapentaplegic homolog 9 (SMAD9) gene with the risk of EH in the Chinese Han population. 30617053 2019
dbSNP: rs121909287
rs121909287
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C0085580
Disease:
Essential Hypertension 		0.010 GeneticVariation BEFREE <b>Conclusion:</b> The SNPs of the rs6435156 and rs1048829 locus in the <i>BMPR2</i> gene, the rs121909287 loci in the <i>ACVRL1</i> gene, and the rs397514716 locus in the <i>SMAD9</i> gene were associated with a risk of EH in Han Chinese. 30617053 2019
dbSNP: rs1057517944
rs1057517944
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		T 0.700 CausalMutation CLINVAR Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension. 23919827 2013
dbSNP: rs1057517944
rs1057517944
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		T 0.700 CausalMutation CLINVAR Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. 15065824 2004
dbSNP: rs1060503248
rs1060503248
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		A 0.700 CausalMutation CLINVAR Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. 14684682 2003
dbSNP: rs1060503248
rs1060503248
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		A 0.700 CausalMutation CLINVAR Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension. 23919827 2013
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
dbSNP: rs1085307405
rs1085307405
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		T 0.700 CausalMutation CLINVAR Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension. 23919827 2013
dbSNP: rs1085307407
rs1085307407
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: rs1085307408
rs1085307408
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		G 0.700 CausalMutation CLINVAR Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. 26387786 2015
dbSNP: rs1085307409
rs1085307409
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		C 0.700 CausalMutation CLINVAR Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia. 19357124 2009
dbSNP: rs1085307415
rs1085307415
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		A 0.700 CausalMutation CLINVAR Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia. 19357124 2009
dbSNP: rs1085307416
rs1085307416
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		G 0.700 CausalMutation CLINVAR Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension. 23919827 2013
dbSNP: rs1085307418
rs1085307418
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		C 0.700 CausalMutation CLINVAR Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension. 23919827 2013
dbSNP: rs1085307420
rs1085307420
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		T 0.700 CausalMutation CLINVAR Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. 20056902 2010
dbSNP: rs1085307422
rs1085307422
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		G 0.700 CausalMutation CLINVAR Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. 15065824 2004
dbSNP: rs1085307423
rs1085307423
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		A 0.700 CausalMutation CLINVAR ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension. 21651515 2012
dbSNP: rs1085307423
rs1085307423
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		A 0.700 CausalMutation CLINVAR Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. 20056902 2010
dbSNP: rs1085307424
rs1085307424
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		G 0.700 CausalMutation CLINVAR ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension. 21651515 2012
dbSNP: rs1085307427
rs1085307427
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		TG 0.700 CausalMutation CLINVAR Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. 15065824 2004
dbSNP: rs1085307428
rs1085307428
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		C 0.700 CausalMutation CLINVAR Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. 14684682 2003
dbSNP: rs1085307429
rs1085307429
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1832529
Disease:
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		T 0.700 CausalMutation CLINVAR Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. 20056902 2010