Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
SESSILE SERRATED POLYPOSIS CANCER SYNDROME
0.400 Biomarker disease CLINGEN RNF43 germline and somatic mutation in serrated neoplasia pathway and its association with BRAF mutation. 27329244 2017
SESSILE SERRATED POLYPOSIS CANCER SYNDROME
0.400 Biomarker disease CLINGEN Lack of evidence for germline RNF43 mutations in patients with serrated polyposis syndrome from a large multinational study. 27582512 2017
SESSILE SERRATED POLYPOSIS CANCER SYNDROME
0.400 Biomarker disease CLINGEN A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred. 27081527 2015
SESSILE SERRATED POLYPOSIS CANCER SYNDROME
0.400 Biomarker disease CLINGEN Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas. 24512911 2014
SESSILE SERRATED POLYPOSIS CANCER SYNDROME
0.400 Biomarker disease CLINGEN Tumour suppressor RNF43 is a stem-cell E3 ligase that induces endocytosis of Wnt receptors. 22895187 2012
SESSILE SERRATED POLYPOSIS CANCER SYNDROME
0.400 Biomarker disease CLINGEN A cancer-associated RING finger protein, RNF43, is a ubiquitin ligase that interacts with a nuclear protein, HAP95. 18313049 2008
SESSILE SERRATED POLYPOSIS CANCER SYNDROME
0.400 CausalMutation disease CLINVAR