Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma
0.330 GeneticVariation disease BEFREE Our data show that somatic mutation of certain residues in GluN2A results in increased survival and is the first such report to demonstrate the functional importance of GRIN2A mutations in melanoma and the significance ionotropic glutamate receptor signaling plays in malignant melanoma. 28986867 2017
CUI: C0025202
Disease: melanoma
melanoma
0.330 GeneticVariation disease BEFREE We hypothesized that certain GRIN2A mutations increase NMDAR function and support melanoma growth through oncogenic effects. 27659111 2016
CUI: C0025202
Disease: melanoma
melanoma
0.330 GeneticVariation disease BEFREE Our data show that somatic mutation of GRIN2A results in increased survival, and we demonstrate the functional importance of GRIN2A mutations in melanoma and the significance that ionotropic glutamate receptor signaling has in malignant melanoma. 24739903 2014
CUI: C0025202
Disease: melanoma
melanoma
0.330 Biomarker disease CTD_human Most importantly, we discovered that TRRAP harbored a recurrent mutation that clustered in one position (p. Ser722Phe) in 6 out of 167 affected individuals (∼4%), as well as a previously unidentified gene, GRIN2A, which was mutated in 33% of melanoma samples. 21499247 2011