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: rs1252348200
rs1252348200
Entrez Id: 2022
Gene Symbol: ENG
ENG
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: rs1252348200
rs1252348200
Entrez Id: 2022
Gene Symbol: ENG
ENG
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: rs1252348200
rs1252348200
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		A 0.700 CausalMutation CLINVAR Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia. 22022569 2011
dbSNP: rs1252348200
rs1252348200
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		A 0.700 CausalMutation 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: rs1252348200
rs1252348200
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		A 0.700 CausalMutation CLINVAR Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. 15024723 2004