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: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 Biomarker disease BEFREE Nicastrin Deficiency Induces Tyrosinase-Dependent Depigmentation and Skin Inflammation. 31437444 2020
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 Biomarker disease BEFREE Therefore, the inhibition of tyrosinase is a primary hypopigmentation mechanism. 30907884 2019
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 Biomarker disease BEFREE DNp73-induced depigmentation, Slug increase and changes in cell motility are recapitulated in neural crest-derived melanophores of Xenopus embryos, underscoring a previously unnoticed physiological role of tyrosinase as EMT inhibitor. 30445206 2019
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 Biomarker disease BEFREE The inhibitors of tyrosinase are important for the treatment of skin diseases associated with hyper-pigmentation after UV exposure and application in cosmetics for whitening and depigmentation. 28478573 2018
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 Biomarker disease BEFREE We have examined the biochemical basis of the RD-induced leukoderma by elucidating the metabolic fate of RD in the course of tyrosinase-catalyzed oxidation. 29439519 2018
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 AlteredExpression disease BEFREE Especially, 4,5-DCQA has depigmentation activity through the inhibitory effect on cellular tyrosinase directly and binding effect on adenylyl cyclase, resulting in the downregulation of MITF protein, thereby reducing the expression of melanogenic enzymes. 30030001 2018
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 Biomarker disease BEFREE 4-n-butyl resorcinol (4-nBR) is a highly effective tyrosinase inhibitor, and can be used in cosmetic product for depigmentation purpose. 29990716 2018
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 Biomarker disease BEFREE The synthesis of melanin is primarily influenced by tyrosinase (TYR), which has attracted interest as a target molecule for the regulation of pigmentation or depigmentation in skin. 29271951 2017
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 AlteredExpression disease BEFREE Whereas, antroquinonol obviously ameliorated depigmentation of mice skin and resisted the reduction of hair follicle length, skin thickness, and tyrosinase expression induced by H<sub>2</sub>O<sub>2</sub>. 29456788 2017
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 Biomarker disease BEFREE CYM upregulated <i>Mitf</i> and possibly activates tyrosinase enzyme, providing evidence for its possible use to promote melanogenesis and as a therapeutic agent against hypopigmentation disorders. 29359158 2017
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 Biomarker disease BEFREE Tyrosinase catalyzes the key step of melanogenesis, dysfunction of tyrosinase leads to reduce melanin production which results in severe clinical and aesthetical problems of hypopigmentation. 28019642 2017
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 AlteredExpression disease BEFREE Taken together, these results suggest that LfB17‑34 induces melanogenesis in B16F10 cells primarily through increased tyrosinase expression and activity and that LfB17‑34 could be further developed for the treatment of hypopigmentation disorders. 28204812 2017
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 AlteredExpression disease BEFREE Further, CNN showed a weak but significant direct inhibitory effect on the enzymatic activity of tyrosinase, suggesting one possible mechanism of hypopigmentation. 29045474 2017
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 AlteredExpression disease BEFREE Semi-quantitative RT-PCR analysis showed that the depigmentation effect of mefenamic acid and nimesulide might be due to the inhibition of tyrosinase gene transcription. 21079976 2011
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 Biomarker disease BEFREE The substantial reduction of SLC45A2 protein in the patient's melanocytes caused the mislocalization of tyrosinase from melanosomes to the plasma membrane and also led to the incorporation of tyrosinase into exosomes and secretion into the culture medium, explaining the hypopigmentation in OCA-4. 21677667 2011
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 Biomarker disease BEFREE Taken together, CFAB is a unique reagent that primarily accelerates tyrosinase decrease by a mechanism that differs from those considered for other hypopigmentation reagents currently reported. 21410768 2011
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 GeneticVariation disease BEFREE Yellow oculocutaneous albinism (OCA) that is caused by tyrosinase gene mutations shows two characteristics: extreme hypopigmentation at birth and the eventual development of yellow or blond hair. 10559577 1999
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 AlteredExpression disease BEFREE We have shown previously that active immunization of mice against the melanocyte differentiation antigen, a tyrosinase-related protein (TRP) gp75(TRP-1) (the brown locus protein) expressed by melanomas, could induce tumor immunity and autoimmunity manifested as depigmentation. 10587362 1999
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 Biomarker disease BEFREE Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency. 7611281 1995
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 AlteredExpression disease BEFREE Patients with the depigmentation disorder vitiligo lack the capacity to synthesize the melanins from L-tyrosine via the essential activity of tyrosinase. 8204666 1994
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 GeneticVariation disease BEFREE A novel type I OCA phenotype in which hypopigmentation is related to local body temperature is associated with a missense substitution in tyrosinase, codon 422 CGG (Arg)----CAG (Gln). 1900309 1991
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 AlteredExpression disease BEFREE Hairbulb tyrosinase activity and glutathione content, as well as urine cysteinyldopa excretion, were low in PWS individuals with and without hypopigmentation and did not separate these two groups. 3578281 1987
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 Biomarker disease HPO
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 CausalMutation disease CLINVAR
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.200 GeneticVariation disease CLINVAR