Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2022
Gene Symbol: ENG
ENG
0.630 Biomarker disease CLINGEN Syndecan-1, Epithelial-Mesenchymal Transition Markers (E-cadherin/β-catenin) and Neoangiogenesis-related Proteins (PCAM-1 and Endoglin) in Colorectal Cancer. 27127133 2016
Entrez Id: 2022
Gene Symbol: ENG
ENG
0.630 Biomarker disease CLINGEN Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955 2013
Entrez Id: 2022
Gene Symbol: ENG
ENG
0.630 Biomarker disease BEFREE Juvenile polyposis (JP) and hereditary hemorrhagic telangiectasia (HHT) are clinically distinct diseases caused by mutations in SMAD4 and BMPR1A (for JP) and endoglin and ALK1 (for HHT). 20101697 2010
Entrez Id: 2022
Gene Symbol: ENG
ENG
0.630 Biomarker disease BEFREE In this study, a comprehensive genetic analysis of SMAD4, BMPR1A, PTEN and ENG is performed through direct sequencing and multiplex ligation-dependent probe amplification (MLPA) in JPS patients. 18178612 2008
Entrez Id: 2022
Gene Symbol: ENG
ENG
0.630 GeneticVariation disease ORPHANET In this study, a comprehensive genetic analysis of SMAD4, BMPR1A, PTEN and ENG is performed through direct sequencing and multiplex ligation-dependent probe amplification (MLPA) in JPS patients. 18178612 2008
Entrez Id: 2022
Gene Symbol: ENG
ENG
0.630 GeneticVariation disease ORPHANET ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis. 17204053 2007
Entrez Id: 2022
Gene Symbol: ENG
ENG
0.630 GeneticVariation disease BEFREE If no causative ENG or ACVRL1 mutation is found, proband samples are referred for sequence analysis of MADH4 (associated with a combined syndrome of juvenile polyposis and HHT). 16690726 2006
Entrez Id: 2022
Gene Symbol: ENG
ENG
0.630 Biomarker disease CLINGEN Of 14 patients with juvenile polyposis, 2 with early-onset disease had mutations in ENG, encoding endoglin, previously only associated with hereditary hemorrhagic telangiectasia; 1 had hemizygous deletion encompassing PTEN and BMPR1A; and 1 had an SMAD4 mutation. 16287957 2005
Entrez Id: 2022
Gene Symbol: ENG
ENG
0.630 Biomarker disease GENOMICS_ENGLAND