TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Albinism, Oculocutaneous ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease GENOMICS_ENGLAND Previous studies have shown that AROA in some cases constitutes a clinically mild presentation of oculocutaneous albinism (OCA), due to mutations in either the TYR (OCA1) or OCA2 (P) genes. 18326704 2008
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease RGD In humans mutations in the TYR gene are associated with type 1 oculocutaneous albinism (OCA1) that leads to reduced or absent pigmentation of skin, hair and eye. 15760344 2005
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease MGD
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease LHGDN Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population. 17516931 2007
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease LHGDN Some OCAI mutations were shown to delete the transmembrane domain or to affect its hydrophobic properties, resulting in soluble tyrosinase mutants that are retained in the endoplasmic reticulum (ER). 15677452 2005
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease LHGDN Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. 18821858 2008
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease LHGDN The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. 12028586 2002
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease LHGDN Four novel mutations of TYR gene in Chinese OCA1 patients. 18701257 2009
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease LHGDN Oculocutaneous albinism (OCA) in man may be caused by mutations within the tyrosinase gene (TYR) resulting in OCA1. 15146472 2004
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease LHGDN Mutations in TYR were found in 26% of patients, while OCA2 and MATP caused OCA in 15% and 3%, respectively.No mutations were found in TYRP1. 19060277 2009
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease LHGDN Defects in the tyrosinase gene (TYR) cause a common type of OCA, known as oculocutaneous albinism type 1 (OCA1). 16907708 2006
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease LHGDN Previous studies have shown that AROA in some cases constitutes a clinically mild presentation of oculocutaneous albinism (OCA), due to mutations in either the TYR (OCA1) or OCA2 (P) genes. 18326704 2008
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease LHGDN A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism. 16517127 2006
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease CTD_human Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 9158138 1997
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease CTD_human We have isolated and characterized the tyrosinase gene of one affected child (S.S.) with tyrosinase-negative OCA. 2511845 1989
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease CLINVAR Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity. 27775880 2017
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease CLINVAR Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. 22294196 2012
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 CausalMutation disease CLINVAR Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. 1642278 1992
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 CausalMutation disease CLINVAR A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. 8434585 1993
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease CLINVAR Mutational mapping of the catalytic activities of human tyrosinase. 1429711 1992
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 CausalMutation disease CLINVAR A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. 1970634 1990
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease CLINVAR Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients. 19320745 2009
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 CausalMutation disease CLINVAR Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. 18821858 2008
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 CausalMutation disease CLINVAR Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1). 25216246 2014