ENG, endoglin, 2022

N. diseases: 371; N. variants: 114
Disease: Hereditary hemorrhagic telangiectasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039506
rs886039506
Entrez Id: 2022;105379841
Gene Symbol: ENG;LOC105379841
ENG;LOC105379841
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		A 0.700 CausalMutation CLINVAR Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. 23722869 2014
dbSNP: rs886039506
rs886039506
Entrez Id: 2022;105379841
Gene Symbol: ENG;LOC105379841
ENG;LOC105379841
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		A 0.700 CausalMutation CLINVAR Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations. 22991266 2012
dbSNP: rs886039506
rs886039506
Entrez Id: 2022;105379841
Gene Symbol: ENG;LOC105379841
ENG;LOC105379841
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		A 0.700 CausalMutation CLINVAR Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. 21158752 2011
dbSNP: rs886039506
rs886039506
Entrez Id: 2022;105379841
Gene Symbol: ENG;LOC105379841
ENG;LOC105379841
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		A 0.700 CausalMutation CLINVAR Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia. 19270816 2009
dbSNP: rs886039506
rs886039506
Entrez Id: 2022;105379841
Gene Symbol: ENG;LOC105379841
ENG;LOC105379841
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		A 0.700 CausalMutation CLINVAR Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. 16705692 2006
dbSNP: rs886039506
rs886039506
Entrez Id: 2022;105379841
Gene Symbol: ENG;LOC105379841
ENG;LOC105379841
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		A 0.700 CausalMutation CLINVAR Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. 15517393 2005
dbSNP: rs886039506
rs886039506
Entrez Id: 2022;105379841
Gene Symbol: ENG;LOC105379841
ENG;LOC105379841
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		A 0.700 CausalMutation CLINVAR Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia. 15521985 2004
dbSNP: rs886039506
rs886039506
Entrez Id: 2022;105379841
Gene Symbol: ENG;LOC105379841
ENG;LOC105379841
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		A 0.700 CausalMutation CLINVAR Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia. 12673790 2003
dbSNP: rs886039506
rs886039506
Entrez Id: 2022;105379841
Gene Symbol: ENG;LOC105379841
ENG;LOC105379841
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		A 0.700 CausalMutation CLINVAR Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. 10625079 2000