TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Oculocutaneous albinism type 1A ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation disease CLINVAR
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 Biomarker disease BEFREE We have isolated and characterized the tyrosinase gene of one affected child (S.S.) with tyrosinase-negative OCA. 2511845 1989
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation disease BEFREE Using the full-length cDNA encoding human tyrosinase and its exon-specific fragments as hybridization probes, we show that overall structural organization of the tyrosinase gene is unchanged in three patients affected with tyrosinase-negative oculocutaneous albinism (OCA). 2517365 1989
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation disease UNIPROT A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. 1970634 1990
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 CausalMutation disease CLINVAR Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. 2342539 1990
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 Biomarker disease BEFREE We have isolated and characterized the tyrosinase gene of one child (F. S.) affected with tyrosinase-negative OCA. 2120217 1990
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 CausalMutation disease CLINVAR Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA. 2113511 1990
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation disease UNIPROT Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. 2342539 1990
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation disease UNIPROT Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. 1899321 1991
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 Biomarker disease BEFREE Mutations in the gene for the pigment-producing enzyme tyrosinase are responsible for type IA (tyrosinase-negative) oculocutaneous albinism (OCA). 1905879 1991
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation disease BEFREE A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism. 1711223 1991
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation disease UNIPROT Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. 1943686 1991
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation disease UNIPROT Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. 1642278 1992
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation disease UNIPROT Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism. 1487241 1992
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 CausalMutation disease CLINVAR Mutational mapping of the catalytic activities of human tyrosinase. 1429711 1992
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation disease BEFREE The phenotype of Type I OCA is broad, ranging from a total lack to only a moderate reduction of melanin, and the phenotypic variation is associated with different mutant alleles at the tyrosinase locus. 8477259 1993
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation disease BEFREE The third, termed ts, produces temperature-sensitive tyrosinase with very low activity at 35 degrees C, but with no activity at temperatures greater than 35 degrees C. Various combinations of these alleles result in tyrosinase-negative (t-/t-), yellow mutant (y/y, y/t-, y/ts), or temperature-sensitive (ts/t-, ts/ts) OCA. 8433007 1993
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation disease BEFREE A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. 8434585 1993
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation disease UNIPROT Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). 7902671 1993
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation disease BEFREE Sequence analysis of the tyrosinase coding region from an individual with tyrosinase-negative oculocutaneous albinism revealed that the patient was a compound heterozygote. 8430701 1993
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation disease UNIPROT Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. 8128955 1994
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation disease UNIPROT Initiation codon mutation of the tyrosinase gene as a cause of human albinism. 7955413 1994
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 CausalMutation disease CLINVAR Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. 8128955 1994
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation disease BEFREE Direct DNA sequence determination of PCR amplified exons of the tyrosinase gene of three British patients suffering from tyrosinase negative oculocutaneous albinism has revealed three new missense point mutations: (1) an adenine to guanine transition at codon 1 changes the initiating methionine codon into a valine codon thereby abolishing translation; (2) a thymine to cytosine transition at codon 370 changes a methionine to a threonine residue; (3) a cytosine to thymine transition at codon 367 changes a histidine to a tyrosine residue. 7955413 1994