rs149617956, MITF

N. diseases: 32
Disease: Neoplasms ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE Transcriptome analysis suggested a decrease in senescence in tumors from Mitf E318K mice. 28376192 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE The Microphthalmia-Associated Transcription Factor p.E318K Mutation Does Not Play a Major Role in Sporadic Renal Cell Tumors from Caucasian Patients. 26999813 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. 23774529 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation 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