TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Albinism, Oculocutaneous ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 GeneticVariation CLINVAR Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. 28266639 2017
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 GeneticVariation CLINVAR Delineating the genetic heterogeneity of OCA in Hungarian patients. 28629449 2017
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 GeneticVariation CLINVAR Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W. 28451379 2017
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 GeneticVariation CLINVAR Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. 25919014 2015
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 GeneticVariation CLINVAR A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. 24721949 2015
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 CausalMutation CLINVAR A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. 24721949 2015
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 CausalMutation CLINVAR Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. 25919014 2015
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 CausalMutation CLINVAR Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. 22294196 2012
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 GeneticVariation CLINVAR Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. 22294196 2012
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 GeneticVariation CLINVAR Molecular and clinical characterization of albinism in a large cohort of Italian patients. 20861488 2011
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 CausalMutation CLINVAR Molecular and clinical characterization of albinism in a large cohort of Italian patients. 20861488 2011
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 CausalMutation CLINVAR A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. 19865097 2010
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 CausalMutation CLINVAR Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. 19060277 2009
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 GeneticVariation CLINVAR Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. 19060277 2009
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 GeneticVariation CLINVAR A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 18326704 2008
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 CausalMutation CLINVAR Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. 18463683 2008
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 CausalMutation CLINVAR A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 18326704 2008
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 GeneticVariation CLINVAR Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. 18463683 2008
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 CausalMutation CLINVAR Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism. 15381243 2004
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 GeneticVariation CLINVAR Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism. 15381243 2004
dbSNP: rs61754381
rs61754381
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		A 0.700 GeneticVariation CLINVAR Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism. 9163730 1997