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: C0311251
Disease: Simple buphthalmos
Simple buphthalmos
0.200 Biomarker disease MGD Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism. 21968110 2011
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos
0.200 Biomarker disease MGD Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. 18715234 2008
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos
0.200 Biomarker disease MGD Topical drug rescue strategy and skin protection based on the role of Mc1r in UV-induced tanning. 16988713 2006
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos
0.200 Biomarker disease MGD Photoreceptor degeneration and loss of retinal function in the C57BL/6-C2J mouse. 15161869 2004
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos
0.200 Biomarker disease MGD Modification of ocular defects in mouse developmental glaucoma models by tyrosinase. 12624268 2003
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos
0.200 Biomarker disease MGD Spatiotemporal features of early neuronogenesis differ in wild-type and albino mouse retina. 12040030 2002
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos
0.200 Biomarker disease MGD Diurnal variation in synaptic ribbon length and visual threshold. 11925014 2002
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos
0.200 Biomarker disease MGD Intraocular pressure in genetically distinct mice: an update and strain survey. 11532192 2001
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos
0.200 Biomarker disease MGD Base substitution at different alternative splice donor sites of the tyrosinase gene in murine albinism. 8921397 1996
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos
0.200 Biomarker disease MGD Genetic regulation of light damage to photoreceptors. 3596986 1987
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos
0.200 Biomarker disease MGD Tyrosinase subcellular distribution and kinetic parameters in wild type and C-locus mutant C57BL/6J mice. 6793688 1981