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: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.500 Biomarker disease CTD_human Exome sequencing of liver fluke-associated cholangiocarcinoma. 22561520 2012
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.500 CausalMutation disease CGI
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.420 GeneticVariation disease BEFREE Further screening of RNF43 in a larger cohort of ovarian tumours identified additional mutations, with a total frequency of 2/22 (9%) in mucinous ovarian borderline tumours and 6/29 (21%) in mucinous ovarian carcinomas. 23096461 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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.420 CausalMutation disease CGI
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.420 Biomarker disease HPO
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE We provide an overview of newly described genes and syndromes associated with predisposition to CRC and polyposis, including: polymerase proofreading-associated polyposis, NTHL1-associated polyposis, mismatch repair gene biallelic inactivation-related adenomatous polyposis (including MSH3- and MLH3-associated polyposes), GREM1-associated mixed polyposis, RNF43-associated serrated polyposis, and RPS20 mutations as a rare cause of hereditary nonpolyposis CRC. 30862463 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE Total eight common upregulated genes were found to be the CRC-related genes such as <i>RNF43</i> (ring finger protein 43), <i>EIF3H</i> (eukaryotic translation initiation factor 3 subunit H), and <i>STRAP</i> (serine/threonine kinase receptor associated protein). 31246501 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 AlteredExpression disease BEFREE RNF43 downregulation was associated with distant metastasis, TNM stage and poorer survival in patients with gastric and colorectal cancers. 30380024 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE Four novel RNF43 mutations (including G659 and R117 sites) were validated in 177 CRC patients; all events were somatic frameshift mutations. 31140864 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE RNF43 mutations were found in 9 of 24 (37.5%) Lynch syndrome colorectal cancers. 28573495 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE In addition, the growth of RNF43 wild-type colorectal cancer cell lines was significantly increased by RNF43 silencing. 29756208 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE The safety and immunological responsiveness of a peptide vaccine of ring finger protein 43 and 34-kDa translocase of the outer mitochondrial membrane combined with uracil-tegafur/leucovorin (UFT/LV) was previously demonstrated in metastatic colorectal cancer (CRC) in a phase I clinical trial. 29541190 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE We previously reported a phase I clinical trial of a peptide vaccine ring finger protein 43 (RNF43) and 34-kDa translocase of the outer mitochondrial membrane (TOMM34) combined with uracil-tegafur (UFT)/LV for patients with metastatic colorectal cancer (CRC), and demonstrated the safety and immunological responsiveness of this combination therapy. 29473265 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.400 Biomarker disease CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE Brg-1 targeting of novel miR550a-5p/RNF43/Wnt signaling axis regulates colorectal cancer metastasis. 28846106 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 AlteredExpression disease BEFREE The present study examined whether it could be possible to quantify the expression of TOMM34 and RNF43 in colorectal cancer and liver metastasis samples prepared from paraffin blocks. 28789449 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE These findings were validated in the TCGA MSI CRCs (p=0.005), which further delineated a significant differential involvement of three Wnt pathway genes between these two groups (RNF43 in MLH1<sup>me+</sup>; APC and CTNNB1 in MLH1<sup>me-</sup>); and identified significant co-occurrence of BRAF and RNF43 mutations in the MSI (p<0.001), microsatellite stable (MSS) (p=0.002) and MLH1<sup>me+</sup> MSI CRCs (p=0.042). 27329244 2017
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
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 AlteredExpression disease BEFREE Knockdown of Brg-1 by small interfering RNA led to decreased RNF43 expression, increased Wnt signaling and increased CRC cell migration and invasion. 25961913 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 AlteredExpression disease BEFREE In addition, knockdown of the expression of this RNF43-SUPT4H1 chimeric transcript was found to have a growth-inhibitory effect in colorectal cancer cells. 27461012 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE The frequency of RNF43 mutation was significantly higher in traditional serrated adenoma with or without cytologic dysplasia and BRAF-mutated/microsatellite-stable colorectal carcinoma than sessile serrated adenoma. 27305845 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE A new study suggests that RNF43 is one of the most commonly mutated genes in endometrial and colorectal cancers and may help identify patients who could potentially benefit from drugs that target the Wnt signaling pathway. 25583782 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE RNF43 has been proposed as a tumor suppressor in colorectal cancers. 25755738 2015