IGF2R, insulin like growth factor 2 receptor, 3482

N. diseases: 166; N. variants: 18
Disease: melanoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma 		0.030 GeneticVariation disease BEFREE Compared to CM, which showed frequent mutations in known driver genes (BRAF 50.0%, NRAS 29.2%), MM displayed lower mutation frequencies (BRAF; 12.2%, p < 0.001, NRAS; 17.1%), and was significantly more enriched for triple wild-type (no mutations in BRAF, RAS, or NF1, 70.7% vs 25.0%, p < 0.001), IGF2R mutation (31.7% vs 6.3%, p = 0.002), and KIT mutation (9.8% vs 0%, p = 0.042). 30373548 2018
CUI: C0025202
Disease: melanoma
melanoma 		0.030 Biomarker disease BEFREE Specifically, melanosomal microRNA-211 directly targets IGF2R and leads to MAPK signalling activation, which reciprocally encourages melanoma growth. 27548915 2016
CUI: C0025202
Disease: melanoma
melanoma 		0.030 AlteredExpression disease BEFREE Some studies have shown H19, and IGF2 genes (or related genes or protein, for example, IGF2R and IMP-3) differential expression in melanoma. 20483645 2010