Source: LHGDN

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 LHGDN Hereditary hemorrhagic telangiectasia type 1 and 2 mutations in Finland. 18607909

2008
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 GeneticVariation LHGDN Combined, these data provide the structural framework to interpret endoglin's functional domains and mutations found in HHT patients. 17081563

2007
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 GeneticVariation LHGDN About 70-80% of HHT patients carries mutations in ENG or ACVRL1 genes, which code for a TGFbeta receptor type III and I respectively. 17786384

2007
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 GeneticVariation LHGDN Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. 17224686

2007
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 AlteredExpression LHGDN Endoglin expression in HHT1 or HHT2 activated monocytes and blood outgrowth endothelial cells (BOECs) from older patients was well below the theoretical 50% level expected from the HHT1 haploinsufficiency model, suggesting that the pathogenic endoglin haploinsufficiency leading to the HHT phenotype is age-dependent. 16470589

2006
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 AlteredExpression LHGDN Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood. 15687131

2005
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 GeneticVariation LHGDN Our results demonstrate the importance of ACVRL1 and ENG mutations in German HHT patients displaying mutation frequencies over 80%. 15880681

2005
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 GeneticVariation LHGDN Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. 15024723

2004
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		1.000 GeneticVariation LHGDN Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. 11793473

2002