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: rs62645904
rs62645904
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		0.730 GeneticVariation BEFREE Compound heterozygous mutations (c.832C>T and c.929_930insC) in the TYR gene may be responsible for partial clinical manifestations of OCA, while the homozygous missense mutation c.814G>A (p.Glu272Lys) in the SLC45A2 gene may not be associated with OCA. 27829221 2016
dbSNP: rs62645904
rs62645904
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		T 0.730 CausalMutation CLINVAR Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. 25919014 2015
dbSNP: rs62645904
rs62645904
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		T 0.730 CausalMutation CLINVAR Genetic analyses of Chinese patients with digenic oculocutaneous albinism. 23324268 2013
dbSNP: rs62645904
rs62645904
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		T 0.730 CausalMutation CLINVAR Three mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with OCA, and we report the first Korean case of OCA2 with the OCA2 gene mutations. 22042571 2012
dbSNP: rs62645904
rs62645904
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		0.730 GeneticVariation BEFREE Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278* and p.Gly419Arg alleles of TYR and the p.Asp486Tyr and c.1045-15 T > G alleles of OCA2 are the most common causes of OCA in Pakistani families. 22734612 2012
dbSNP: rs62645904
rs62645904
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		T 0.730 CausalMutation CLINVAR Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278* and p.Gly419Arg alleles of TYR and the p.Asp486Tyr and c.1045-15 T > G alleles of OCA2 are the most common causes of OCA in Pakistani families. 22734612 2012
dbSNP: rs62645904
rs62645904
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		T 0.730 CausalMutation CLINVAR Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. 20806075 2010
dbSNP: rs62645904
rs62645904
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		T 0.730 CausalMutation CLINVAR Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene. 16056219 2005
dbSNP: rs62645904
rs62645904
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		T 0.730 CausalMutation CLINVAR Two novel deletions (c.937del8, c.1379del2) and a previously known nonsense mutation (R278X) in the TYR gene were identified from a total of 8 oculocutaneous albinism patients in India. 15635296 2004
dbSNP: rs62645904
rs62645904
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		0.730 GeneticVariation BEFREE Two novel deletions (c.937del8, c.1379del2) and a previously known nonsense mutation (R278X) in the TYR gene were identified from a total of 8 oculocutaneous albinism patients in India. 15635296 2004
dbSNP: rs62645904
rs62645904
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		T 0.730 CausalMutation CLINVAR Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism. 15381243 2004
dbSNP: rs62645904
rs62645904
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		T 0.730 CausalMutation CLINVAR Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. 8128955 1994
dbSNP: rs62645904
rs62645904
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		T 0.730 CausalMutation CLINVAR Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). 7902671 1993