MTAP, methylthioadenosine phosphorylase, 4507

N. diseases: 167; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.130 GeneticVariation disease BEFREE This exploratory study is the first to show a significant association between the rs869330 variant (in the MTAP gene) and outcome in a large CM population. 30681428 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.130 GeneticVariation disease GWASCAT Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways. 30429480 2018
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.130 GeneticVariation disease BEFREE Several association studies and GWAS on melanoma skin cancer risk have reported statistically significant signals on 9p21.3 region, where MTAP gene maps. 27761950 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.130 Biomarker disease BEFREE In the supplementary meta-analyses, a locus at 9p21.3 (CDKN2A/MTAP) reached genome-wide statistical significance with CM and had strong epidemiological credibility. 21693730 2011