SLC45A2, solute carrier family 45 member 2, 51151

N. diseases: 75; N. variants: 46
Disease: Cutaneous Melanoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.040 GeneticVariation disease BEFREE We identified a likely pathogenic SLC45A2 frameshift variant that fully segregated with CM in a family of four cases. 31233279 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.040 GeneticVariation disease BEFREE MC1R, TYR, VDR and SLC45A2 genes were found to be associated with CMM in our population. 24926819 2014
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.040 GeneticVariation disease BEFREE Eight loci were identified in the main meta-analyses as being associated with a risk of CM (P < .05) of which four loci showed a genome-wide statistically significant association (P < 1 × 10(-7)), including 16q24.3 (MC1R), 20q11.22 (MYH7B/PIGU/ASIP), 11q14.3 (TYR), and 5p13.2 (SLC45A2). 21693730 2011
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.040 GeneticVariation disease BEFREE In this paper, we test a selected set of polymorphisms in pigmentation loci (ASIP (Agouti signalling protein, nonagouti homolog (mouse) gene), TYR (tyrosinase), TYRP1 (tyrosinase-related protein 1), MC1R, OCA2, IRF4 (interferon regulatory factor 4), SLC24A4 (solute carrier family 24, member 4), and SLC45A2 (solute carrier family 45, member 2)) for association with CMM risk in a large Australian population-based case-control study. 19710684 2010