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: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism. 24934919 2014
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 23504663 2013
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT A population-based study of autosomal-recessive disease-causing mutations in a founder population. 22981120 2012
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. 15146472 2004
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). 11858948 2002
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Mutation analysis of the tyrosinase gene in oculocutaneous albinism. 11295837 2001
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. 10987646 1999
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan. 10571953 1999
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online. 10671066 1998
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1). 9259202 1997
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Diagnosis of oculocutaneous albinism with molecular analysis. 8644824 1996
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. 8128955 1994
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Initiation codon mutation of the tyrosinase gene as a cause of human albinism. 7955413 1994
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). 7902671 1993
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism. 1487241 1992
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. 1642278 1992
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. 1943686 1991
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. 1899321 1991
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. 2342539 1990
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. 1970634 1990
dbSNP: rs28940879
rs28940879
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		A 0.800 CausalMutation CLINVAR