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: rs1564466414
rs1564466414
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		G 0.700 GeneticVariation CLINVAR Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation. 19767588 2009
dbSNP: rs1564466414
rs1564466414
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease:
Hereditary hemorrhagic telangiectasia 		G 0.700 GeneticVariation CLINVAR Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. 15024723 2004