Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.630 Biomarker 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
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.630 Biomarker 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
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.630 Biomarker 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