ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.420 GeneticVariation disease CLINVAR Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. 23722869 2014
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.420 GeneticVariation disease CLINVAR Hereditary hemorrhagic telangiectasia in Japanese patients. 24196379 2014
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.420 GeneticVariation disease BEFREE No significant differences in allele frequency were found between sporadic BAVM cases and controls or between HHT1 patients with and without BAVM for any of the polymorphisms or the combination of ACVRL1 and ENG polymorphisms. 24323303 2013
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.420 GeneticVariation disease CLINVAR Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension. 23919827 2013
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.420 Biomarker disease CTD_human Estrogen therapy for hereditary haemorrhagic telangiectasia (HHT): Effects of raloxifene, on Endoglin and ALK1 expression in endothelial cells. 20135064 2010
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.420 GeneticVariation disease BEFREE EDTA (ethylene diamine tetraacetic acid) blood samples of 24 patients were sequenced genetically into genotype HHT1 (ENG) vs HHT2 (ALK-1) and mutation type missense vs nonsense. 18855162 2009
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.420 GeneticVariation disease CLINVAR Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia. 18673552 2008
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.420 GeneticVariation disease 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
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.420 GeneticVariation disease CLINVAR Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. 17384219 2007
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.420 GeneticVariation disease 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
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.420 GeneticVariation disease CLINVAR DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population. 16429404 2006
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.420 GeneticVariation disease CLINVAR Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 16470787 2006
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.420 GeneticVariation disease CLINVAR Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. 15517393 2005
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.420 GeneticVariation disease CLINVAR Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. 15065824 2004
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.420 GeneticVariation disease CLINVAR Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. 15024723 2004