RNF43, ring finger protein 43, 54894

N. diseases: 88; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 Biomarker disease BEFREE These results suggest that RNF43 is involved in tumorigenesis and progression of HCCs and that antagonism of RNF43 may be beneficial for HCC treatment. 23136185 2013
CUI: C0030283
Disease: Pancreatic Cyst
Pancreatic Cyst 		0.010 Biomarker disease BEFREE In recent years major advances in molecular technologies, including whole-exome sequencing, have significantly enhanced our knowledge of pancreatic premalignancy and have identified potentially highly specific diagnostic biomarkers such as mutations in GNAS and RNF43 that could be used to pre-operatively assess pancreatic cysts. 23442735 2013
CUI: C2698399
Disease: Myeloperoxidase Measurement
Myeloperoxidase Measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia. 23620142 2013
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.330 GeneticVariation disease BEFREE Ubiquitin E3 ligase ring finger 43 (RNF43) has been suggested as a negative regulator of Wnt signaling, and mutations of RNF43 have been identified in various tumors, including cystic pancreatic tumors. 23847203 2013
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.110 GeneticVariation disease BEFREE LGK974 inhibited proliferation and induced differentiation of RNF43-mutant pancreatic adenocarcinoma xenograft models. 23847203 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE However, loss of function study of RNF43 in cell culture has not been conducted, and the functional significance of RNF43 mutations in cancer is unknown. 23847203 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 GeneticVariation group BEFREE However, loss of function study of RNF43 in cell culture has not been conducted, and the functional significance of RNF43 mutations in cancer is unknown. 23847203 2013
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		0.030 GeneticVariation disease BEFREE Inactivating mutations of RNF43 confer Wnt dependency in pancreatic ductal adenocarcinoma. 23847203 2013
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.420 GeneticVariation disease BEFREE RNF43 mutations are recurrent in Chinese patients with mucinous ovarian carcinoma but absent in other subtypes of ovarian cancer. 24001777 2013
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		0.310 GeneticVariation disease BEFREE Additionally, the absence of RNF43 mutations in other subtypes of ovarian carcinoma implicated that RNF43 mutations might not be actively involved in the pathogenesis of these disorders. 24001777 2013
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.310 GeneticVariation disease BEFREE Additionally, the absence of RNF43 mutations in other subtypes of ovarian carcinoma implicated that RNF43 mutations might not be actively involved in the pathogenesis of these disorders. 24001777 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.090 GeneticVariation phenotype BEFREE Recurrent RNF43 mutations existed in mucinous ovarian carcinomas implicated that these mutations might play crucial roles in the tumorigenesis of these patients, while the absence of DICER1, PPP2R1A, TRRAP and DNMT3A hot-spot mutations suggested that these genetic alterations might not play synergistic roles with RNF43 mutations in these individuals. 24001777 2013
CUI: C0007130
Disease: Mucinous Adenocarcinoma
Mucinous Adenocarcinoma 		0.010 GeneticVariation disease BEFREE Recently, large-scale sequencing efforts have identified prevalent RNF43 mutations in pancreatic and ovarian mucinous carcinomas. 24001777 2013
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 GeneticVariation disease BEFREE Additionally, the absence of RNF43 mutations in other subtypes of ovarian carcinoma implicated that RNF43 mutations might not be actively involved in the pathogenesis of these disorders. 24001777 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE GNAS and RNF43 mutations have been discovered in most intraductal pancreatic mucinous neoplasms, providing critical molecular fingerprints for their diagnosis. 24436263 2014
CUI: C4310714
Disease: SESSILE SERRATED POLYPOSIS CANCER SYNDROME
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
CUI: C0032584
Disease: polyps
polyps 		0.030 GeneticVariation phenotype BEFREE In 2 subjects,we found nonsense mutations in RNF43, indicating that it is also associated with multiple serrated polyps (odds ratio, 460; 95% confidence interval, 23.1–16,384; P = 6.8 x 10(-5)). 24512911 2014
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.320 Biomarker disease CTD_human Whole-genome sequencing and comprehensive molecular profiling identify new driver mutations in gastric cancer. 24816253 2014
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.300 Biomarker group CTD_human Whole-genome sequencing and comprehensive molecular profiling identify new driver mutations in gastric cancer. 24816253 2014
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.300 Biomarker disease CTD_human Whole-genome sequencing and comprehensive molecular profiling identify new driver mutations in gastric cancer. 24816253 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE We evaluated somatic mutations of RNF43 and the expression of ring finger protein 43 as well as their associations with the molecular and clinicopathological features in 176 surgically resected intraductal papillary mucinous neoplasms. 25081753 2015
CUI: C4511687
Disease: Pancreatic Intraductal Papillary Mucinous Neoplasm
Pancreatic Intraductal Papillary Mucinous Neoplasm 		0.030 GeneticVariation disease BEFREE These results indicate that RNF43 mutation might cause downregulation of the expression of ring finger protein 43 and play a crucial role and associate synergistically with GNAS mutation during development of intraductal papillary mucinous neoplasm of the pancreas. 25081753 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.400 Biomarker disease CTD_human RNF43 is frequently mutated in colorectal and endometrial cancers. 25344691 2014
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.330 Biomarker group CTD_human RNF43 is frequently mutated in colorectal and endometrial cancers. 25344691 2014
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.320 Biomarker disease CTD_human These results indicate that RNF43 is one of the most commonly mutated genes in colorectal and endometrial cancers. 25344691 2014