Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868081
Disease: Juvenile Polyposis Coli
Juvenile Polyposis Coli
0.800 GermlineCausalMutation disease ORPHANET The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382 2009
CUI: C1868081
Disease: Juvenile Polyposis Coli
Juvenile Polyposis Coli
0.800 Biomarker disease CLINGEN Cyclooxygenase-2 expression in polyps from a patient with juvenile polyposis syndrome with mutant BMPR1A. 17325551 2007
CUI: C1868081
Disease: Juvenile Polyposis Coli
Juvenile Polyposis Coli
0.800 Biomarker disease CLINGEN BMP signaling inhibits intestinal stem cell self-renewal through suppression of Wnt-beta-catenin signaling. 15378062 2004
CUI: C1868081
Disease: Juvenile Polyposis Coli
Juvenile Polyposis Coli
0.800 Biomarker disease CLINGEN Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. 11536076 2001
CUI: C1868081
Disease: Juvenile Polyposis Coli
Juvenile Polyposis Coli
0.800 Biomarker disease CLINGEN Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. 11381269 2001
CUI: C1868081
Disease: Juvenile Polyposis Coli
Juvenile Polyposis Coli
0.800 Biomarker disease MGD
CUI: C1868081
Disease: Juvenile Polyposis Coli
Juvenile Polyposis Coli
0.800 Biomarker disease CTD_human