TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Oculocutaneous albinism type 1A ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61754388
rs61754388
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.710 GeneticVariation BEFREE Based on the quantitative assessment and flexibility analysis of OCA1A variants, T373K showed the most deleterious effect. 23085273 2013
dbSNP: rs61754388
rs61754388
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		A 0.710 CausalMutation CLINVAR Molecular and clinical characterization of albinism in a large cohort of Italian patients. 20861488 2011
dbSNP: rs61754388
rs61754388
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		A 0.710 CausalMutation CLINVAR Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. 18463683 2008
dbSNP: rs61754388
rs61754388
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		A 0.710 CausalMutation CLINVAR A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 18326704 2008
dbSNP: rs61754388
rs61754388
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		A 0.710 CausalMutation CLINVAR Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. 15146472 2004
dbSNP: rs61754388
rs61754388
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		A 0.710 CausalMutation CLINVAR Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. 13680365 2003
dbSNP: rs61754388
rs61754388
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		A 0.710 CausalMutation CLINVAR Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. 8128955 1994
dbSNP: rs61754388
rs61754388
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		A 0.710 CausalMutation CLINVAR Mutational mapping of the catalytic activities of human tyrosinase. 1429711 1992
dbSNP: rs61754388
rs61754388
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		A 0.710 CausalMutation CLINVAR Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. 2342539 1990