TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61753185
rs61753185
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		A 0.810 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
dbSNP: rs28940876
rs28940876
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism. 24934919 2014
dbSNP: rs61753180
rs61753180
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism. 24934919 2014
dbSNP: rs61753185
rs61753185
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism. 24934919 2014
dbSNP: rs28940876
rs28940876
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 23504663 2013
dbSNP: rs61753180
rs61753180
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 23504663 2013
dbSNP: rs61753185
rs61753185
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 23504663 2013
dbSNP: rs28940876
rs28940876
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT A population-based study of autosomal-recessive disease-causing mutations in a founder population. 22981120 2012
dbSNP: rs61753180
rs61753180
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT A population-based study of autosomal-recessive disease-causing mutations in a founder population. 22981120 2012
dbSNP: rs61753185
rs61753185
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		A 0.810 CausalMutation CLINVAR Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. 22294196 2012
dbSNP: rs61753185
rs61753185
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT A population-based study of autosomal-recessive disease-causing mutations in a founder population. 22981120 2012
dbSNP: rs61753185
rs61753185
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		A 0.810 CausalMutation CLINVAR Molecular analysis of Korean patients with oculocutaneous albinism. 22042571 2012
dbSNP: rs28940876
rs28940876
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. 15146472 2004
dbSNP: rs61753180
rs61753180
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. 15146472 2004
dbSNP: rs61753185
rs61753185
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. 15146472 2004
dbSNP: rs28940876
rs28940876
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). 11858948 2002
dbSNP: rs61753180
rs61753180
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). 11858948 2002
dbSNP: rs61753185
rs61753185
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). 11858948 2002
dbSNP: rs28940876
rs28940876
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT Mutation analysis of the tyrosinase gene in oculocutaneous albinism. 11295837 2001
dbSNP: rs61753180
rs61753180
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT Mutation analysis of the tyrosinase gene in oculocutaneous albinism. 11295837 2001
dbSNP: rs61753185
rs61753185
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT Mutation analysis of the tyrosinase gene in oculocutaneous albinism. 11295837 2001
dbSNP: rs28940876
rs28940876
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. 10987646 1999
dbSNP: rs28940876
rs28940876
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan. 10571953 1999
dbSNP: rs61753180
rs61753180
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. 10987646 1999
dbSNP: rs61753180
rs61753180
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan. 10571953 1999