Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE Clinical spectrum of SDH, BAP1, and MITF is still being defined, although these appear to be associated with a lower incidence of RCC. 31326218 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE Xp11 rearrangement in renal cell carcinoma (RCC) typically involves gene fusion to the gene encoding transcription factor E3 (TFE3), a member of the microphthalmia-associated transcription factor family on chromosome Xp11.2. 30908700 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 Biomarker disease BEFREE In addition, SUMOylation of MITF modulates renal tumors secondary to melanoma, Similarly, SUMOylation of tumor suppressor gene VHL regulates the occurrence of renal cell carcinoma in VHL syndrome. 30707172 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE Finally, we found the known E318K-substitution in MITF in a RCC-affected member of a family with multiple melanomas.No variants were detected in CDKN2B. 31034483 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE Notably, 7/9 (78%) renal cell carcinomas exhibiting subnuclear clearing and linear nuclear array (6 of which showed high World Health Organization/International Society of Urological Pathology nucleolar grade) demonstrated TFE3 translocation, an association that was statistically significant when compared with renal cell carcinomas without MITF aberrations (P=0.009). 28840857 2018
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE Herein, we identify a case of MITF translocation RCC with the novel PRCC-MITF gene fusion by RNA sequencing. 29148086 2018
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 Biomarker disease BEFREE New familial types of RCC are continuously discovered, vis-à-vis recent characterization of BAP1 associated RCC and MITF associated cancer syndrome. 30116909 2018
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE The gene MITF variant p.E318K also predisposes to melanoma and renal cell carcinoma. 26650189 2016
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE A case-control study on melanoma patients who coincidentally were affected by renal cell carcinoma (RCC) has revealed an elevated risk for mutation carriers to be affected by one or both of these malignancies, suggesting a possible role for MITF p.E318K in renal carcinogenesis. 26999813 2016
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE Interestingly, an association of the MITF mutation with coexisting melanoma and renal cell carcinoma was also shown. 24290354 2015
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE A French and an Australian study have recently identified a rare germline functional variant in the microphthalmia-associated transcription factor (MITF) (E318K) that predisposes to familial and sporadic melanoma and to renal cell carcinoma (RCC), showing a new link between two tumour types with different risk factors and between deregulated sumoylation and cancer. 23167872 2013
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 Biomarker disease CTD_human Overall, Mi-E318K carriers had a higher than fivefold increased risk of developing melanoma, RCC or both cancers. 22012259 2011
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE We therefore proposed that MITF might have a role in conferring a genetic predisposition to co-occurring melanoma and RCC. 22012259 2011
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 AlteredExpression disease BEFREE Quantification of MITF mRNA expression might be clinically useful to predict metastasis and survival of patients with RCC. 19496784 2009
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 AlteredExpression disease BEFREE Moreover, since this is the second MITF/TFE transcription factor that is involved in RCC development, our findings point towards a concept in which this bHLH-LZ subfamily may play a critical role in the regulation of (aberrant) renal cellular growth. 12837690 2003
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 Biomarker disease HPO