ENG, endoglin, 2022

N. diseases: 371; N. variants: 114
Disease: JUVENILE POLYPOSIS OF STOMACH ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		0.500 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
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		0.500 Biomarker disease CLINGEN Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955 2013
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		0.500 GeneticVariation disease ORPHANET Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. 18178612 2008
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		0.500 GeneticVariation disease ORPHANET ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis. 17204053 2007
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		0.500 Biomarker disease CLINGEN Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. 16287957 2005