Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 Biomarker GENOMICS_ENGLAND Genetic background-dependent role of Egr1 for eyelid development. 28778995

2017
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 CausalMutation CLINVAR Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase. 25703744

2015
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism. 24934919

2014
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation BEFREE Mutations T373K, N371Y, M370T and P313R were suggested as high deleterious effect on TYR protein and it is responsible for OCA1A which were also endorsed with previous in vivo experimental studies. 23085273

2013
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 23504663

2013
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 CausalMutation CLINVAR DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 23504663

2013
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 CausalMutation CLINVAR Molecular analysis of Korean patients with oculocutaneous albinism. 22042571

2012
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT A population-based study of autosomal-recessive disease-causing mutations in a founder population. 22981120

2012
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 CausalMutation CLINVAR Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. 22294196

2012
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 CausalMutation CLINVAR Genotype analysis in a patient with oculocutaneous albinism 1 minimal pigment type. 21985232

2012
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 CausalMutation CLINVAR Molecular and clinical characterization of albinism in a large cohort of Italian patients. 20861488

2011
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 CausalMutation CLINVAR Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism. 21458243

2011
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 CausalMutation CLINVAR Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. 18463683

2008
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 CausalMutation CLINVAR A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 18326704

2008
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 Biomarker GENOMICS_ENGLAND A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 18326704

2008
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 CausalMutation CLINVAR Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system. 16570240

2006
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. 15146472

2004
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 CausalMutation CLINVAR Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. 15146472

2004
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 CausalMutation CLINVAR Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. 13680365

2003
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 AlteredExpression BEFREE Tyrosinase is a rate-limiting enzyme in the melanin biosynthetic pathway and a complete defect of the enzyme activity caused by homozygous mutations of the tyrosinase gene is well known to result in tyrosinase-negative oculocutaneous albinism (OCA1A) patients who never develop any melanin pigment in the skin, hair and eyes throughout life. 11858948

2002
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Tyrosinase is a rate-limiting enzyme in the melanin biosynthetic pathway and a complete defect of the enzyme activity caused by homozygous mutations of the tyrosinase gene is well known to result in tyrosinase-negative oculocutaneous albinism (OCA1A) patients who never develop any melanin pigment in the skin, hair and eyes throughout life. 11858948

2002
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 Biomarker CTD_human Identification of active site residues involved in metal cofactor binding and stereospecific substrate recognition in Mammalian tyrosinase. Implications to the catalytic cycle. 11781109

2002
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Mutation analysis of the tyrosinase gene in oculocutaneous albinism. 11295837

2001
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan. 10571953

1999
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. 10987646

1999