TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.200 AlteredExpression disease BEFREE The most potent amide derivative (5c) based on cell-free experiments, was further tested for cellular ROS inhibition and for tyrosinase activity using mouse skin melanoma (B16F10) cells. 30892163 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.200 Biomarker disease BEFREE Tyrosinase (TYR) plays a vital role in melanin biosynthesis and is widely regarded as a relatively specific marker for melanocytic lesions which involve vitiligo, malignant cutaneous melanoma, Parkinson's disease (PD), etc. 29696968 2018
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.200 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
0.200 GeneticVariation disease BEFREE Of particular interest, a stopgain variant in TYR was present in five of six CMM cases/obligate gene carriers in one family and a single population-based CMM case. 29036293 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.200 AlteredExpression disease BEFREE Moreover, the expression level of miR-330-5p in CMM tissues showed inverse relationship with the expression level of TYR and PDIA3 protein. 27363653 2016
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.200 Biomarker 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
0.200 GeneticVariation disease BEFREE We genotyped a frequent TYR variant (p.R402Q) in 1273 patients {1047 cutaneous melanoma (CM) and 226 basal cell carcinoma (BCC)} and 925 controls, and the full coding region of TYR was sequenced in 287 patients suspected of genetic predisposition to SK (familial and/or multiple SK and/or onset before 40 years) and 187 controls. 21906913 2011
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.200 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
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.200 GeneticVariation disease BEFREE The variant in TYR encoding the R402Q amino acid substitution, previously shown to affect eye color and tanning response, conferred risk of CM (OR = 1.21, P = 2.8 x 10(-7)) and BCC (OR = 1.14, P = 6.1 x 10(-4)). 18488027 2008
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.200 Biomarker disease BEFREE We analyzed the sera from patients with vitiligo and cutaneous melanoma for reactivity toward tyrosinase peptide sequences 1) endowed with low level of similarity to human proteome, and 2) potentially able to bind HLA-DR1 Ags. 16272362 2005
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.200 AlteredExpression disease BEFREE This study examined whether there was any abnormal melanin pigmentation or cell damage after the ectopic expression of tyrosinase in fibroblasts from FAMMM patients when compared with fibroblasts from normal subjects. 15457095 2004
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.200 Biomarker disease BEFREE To detect micrometastases in the sentinel lymph nodes (SLN) of melanoma patients the authors analysed 52 lymph nodes (47 SLNs and five non-sentinel) and 17 corresponding primary skin melanomas using reverse transcriptase-polymerase chain reaction assays in paraffin-embedded tissues to detect the mRNAs of tyrosinase, MAGE1, MAGE3, MIA, MART-1 and mRNA coding for telomerase catalytic component. 11952287 2002
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.200 AlteredExpression disease BEFREE A meta-analysis of reverse transcriptase-polymerase chain reaction for tyrosinase mRNA as a marker for circulating tumor cells in cutaneous melanoma. 11255333 2001
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.200 AlteredExpression disease BEFREE The purpose of this study was to evaluate whether tyrosinase mRNA is detectable in the peripheral blood of patients with uveal and cutaneous melanoma and in patients with uveal melanoma undergoing surgical procedures on the eye harbouring the tumour. 7599046 1995