Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 GeneticVariation CLINVAR Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1. 25970827

2016
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1. 25970827

2016
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. 23722869

2014
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR National mutation study among Danish patients with hereditary haemorrhagic telangiectasia. 24001356

2014
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR Hereditary hemorrhagic telangiectasia in Japanese patients. 24196379

2014
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR Investigation of endoglin wild-type and missense mutant protein heterodimerisation using fluorescence microscopy based IF, BiFC and FRET analyses. 25080347

2014
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension. 23919827

2013
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 GeneticVariation CLINVAR Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations. 22991266

2012
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 GeneticVariation CLINVAR A novel ENG mutation causing impaired co-translational processing of endoglin associated with hereditary hemorrhagic telangiectasia. 22385575

2012
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR A novel ENG mutation causing impaired co-translational processing of endoglin associated with hereditary hemorrhagic telangiectasia. 22385575

2012
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations. 22991266

2012
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR Anti-VEGF with 3-week intervals is effective on anemia in a patient with severe hereditary hemorrhagic telangiectasia. 20824275

2011
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia. 22022569

2011
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 GeneticVariation CLINVAR Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. 21158752

2011
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia. 22192717

2011
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 GeneticVariation CLINVAR Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia. 22022569

2011
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. 21158752

2011
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia. 21967607

2011
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR The physiological role of endoglin in the cardiovascular system. 20656886

2010
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. 20414677

2010
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 GeneticVariation CLINVAR The physiological role of endoglin in the cardiovascular system. 20656886

2010
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations. 20501893

2010
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR "Mutation analysis of ""Endoglin"" and ""Activin receptor-like kinase"" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique." 19508727

2009
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation. 19767588

2009
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 CausalMutation CLINVAR Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia. 19270816

2009