ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517944
rs1057517944
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4551861
Disease:
Telangiectasia, Hereditary Hemorrhagic, Type 1 		T 0.700 GeneticVariation CLINVAR Hereditary hemorrhagic telangiectasia in Japanese patients. 24196379 2014
dbSNP: rs1057517944
rs1057517944
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4551861
Disease:
Telangiectasia, Hereditary Hemorrhagic, Type 1 		T 0.700 GeneticVariation CLINVAR Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. 23722869 2014
dbSNP: rs1057517944
rs1057517944
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4551861
Disease:
Telangiectasia, Hereditary Hemorrhagic, Type 1 		T 0.700 GeneticVariation 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: C4551861
Disease:
Telangiectasia, Hereditary Hemorrhagic, Type 1 		T 0.700 GeneticVariation CLINVAR Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia. 18673552 2008
dbSNP: rs1057517944
rs1057517944
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4551861
Disease:
Telangiectasia, Hereditary Hemorrhagic, Type 1 		T 0.700 GeneticVariation CLINVAR Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. 17384219 2007
dbSNP: rs1057517944
rs1057517944
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4551861
Disease:
Telangiectasia, Hereditary Hemorrhagic, Type 1 		T 0.700 GeneticVariation CLINVAR Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. 17786384 2007
dbSNP: rs1555153354
rs1555153354
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4551861
Disease:
Telangiectasia, Hereditary Hemorrhagic, Type 1 		A 0.700 GeneticVariation CLINVAR Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients. 17219009 2007
dbSNP: rs1057517944
rs1057517944
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4551861
Disease:
Telangiectasia, Hereditary Hemorrhagic, Type 1 		T 0.700 GeneticVariation CLINVAR DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population. 16429404 2006
dbSNP: rs1555153354
rs1555153354
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4551861
Disease:
Telangiectasia, Hereditary Hemorrhagic, Type 1 		A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 16470787 2006
dbSNP: rs1057517944
rs1057517944
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4551861
Disease:
Telangiectasia, Hereditary Hemorrhagic, Type 1 		T 0.700 GeneticVariation CLINVAR Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. 15517393 2005
dbSNP: rs1057517944
rs1057517944
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4551861
Disease:
Telangiectasia, Hereditary Hemorrhagic, Type 1 		T 0.700 GeneticVariation CLINVAR Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. 15024723 2004
dbSNP: rs1057517944
rs1057517944
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4551861
Disease:
Telangiectasia, Hereditary Hemorrhagic, Type 1 		T 0.700 GeneticVariation CLINVAR Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. 15065824 2004
dbSNP: rs1555152440
rs1555152440
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4551861
Disease:
Telangiectasia, Hereditary Hemorrhagic, Type 1 		CT 0.700 GeneticVariation CLINVAR
dbSNP: rs863223414
rs863223414
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4551861
Disease:
Telangiectasia, Hereditary Hemorrhagic, Type 1 		C 0.700 GeneticVariation CLINVAR