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: rs1060503248
rs1060503248
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		A 0.800 CausalMutation CLINVAR Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1. 25970827 2016
dbSNP: rs28936401
rs28936401
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		T 0.800 CausalMutation CLINVAR Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1. 25970827 2016
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia. 26176610 2015
dbSNP: rs121909284
rs121909284
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia. 26176610 2015
dbSNP: rs121909285
rs121909285
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia. 26176610 2015
dbSNP: rs121909286
rs121909286
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia. 26176610 2015
dbSNP: rs121909287
rs121909287
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		T 0.800 CausalMutation CLINVAR Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia. 26176610 2015
dbSNP: rs121909287
rs121909287
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia. 26176610 2015
dbSNP: rs121909288
rs121909288
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia. 26176610 2015
dbSNP: rs1555153277
rs1555153277
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia. 26176610 2015
dbSNP: rs28936399
rs28936399
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia. 26176610 2015
dbSNP: rs28936687
rs28936687
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia. 26176610 2015
dbSNP: rs28936688
rs28936688
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia. 26176610 2015
dbSNP: rs28936401
rs28936401
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		T 0.800 CausalMutation CLINVAR Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. 23722869 2014
dbSNP: rs863223414
rs863223414
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		A 0.800 CausalMutation CLINVAR Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. 23722869 2014
dbSNP: rs121909284
rs121909284
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		A 0.800 CausalMutation CLINVAR HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis. 23805858 2013
dbSNP: rs121909284
rs121909284
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		C 0.800 CausalMutation CLINVAR HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis. 23805858 2013
dbSNP: rs121909287
rs121909287
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		T 0.800 CausalMutation CLINVAR Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations. 23124896 2013
dbSNP: rs28936401
rs28936401
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		T 0.800 CausalMutation CLINVAR HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis. 23805858 2013
dbSNP: rs863223414
rs863223414
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		A 0.800 CausalMutation CLINVAR A rare cause of fatal right ventricular cardiac decompensation. 22377182 2013
dbSNP: rs28936401
rs28936401
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		T 0.800 CausalMutation CLINVAR Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations. 22991266 2012
dbSNP: rs863223414
rs863223414
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		A 0.800 CausalMutation CLINVAR Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient. 22553411 2012
dbSNP: rs1060503248
rs1060503248
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		A 0.800 CausalMutation CLINVAR Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. 21158752 2011
dbSNP: rs1060503248
rs1060503248
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. 19553198 2011
dbSNP: rs1085307419
rs1085307419
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1838163
Disease:
OSLER-RENDU-WEBER SYNDROME 2 		0.800 GeneticVariation UNIPROT International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. 19553198 2011