Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.720 Biomarker disease GENOMICS_ENGLAND Genetic background-dependent role of Egr1 for eyelid development. 28778995 2017
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.720 GeneticVariation disease BEFREE Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). 28667292 2017
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.720 CausalMutation disease CLINVAR Genotype analysis in a patient with oculocutaneous albinism 1 minimal pigment type. 21985232 2012
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.720 Biomarker disease GENOMICS_ENGLAND A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 18326704 2008
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.720 GeneticVariation disease UNIPROT Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. 10987646 1999
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.720 GeneticVariation disease BEFREE Here we report a patient with type IB oculocutaneous albinism who is a compound heterozygote for TYR allele containing a mutation that is likely to affect pre-RNA splicing and a paternally inherited allele in which the TYR gene is completely deleted, the first such allele described to date. 8618053 1996
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.720 GeneticVariation disease UNIPROT Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. 8128955 1994
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.720 CausalMutation disease CLINVAR Mutational mapping of the catalytic activities of human tyrosinase. 1429711 1992
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.720 GeneticVariation disease UNIPROT "Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism." 1903591 1991
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.720 GeneticVariation disease UNIPROT A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse. 1900309 1991
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.720 CausalMutation disease CLINVAR Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. 2342539 1990
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.720 GeneticVariation disease CLINVAR
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.720 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.720 Biomarker disease CTD_human