TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Albinism, Oculocutaneous ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease MGD
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease CLINVAR Mutational mapping of the catalytic activities of human tyrosinase. 1429711 1992
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 CausalMutation disease CLINVAR Mutational mapping of the catalytic activities of human tyrosinase. 1429711 1992
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 CausalMutation disease CLINVAR Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. 1642278 1992
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease BEFREE Here, we describe 11 novel mutations of the tyrosinase gene in Caucasian patients with these 2 forms of type I OCA. 1642278 1992
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease BEFREE A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. 1832718 1991
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease BEFREE Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. 1899321 1991
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease BEFREE In this paper, we report a new type of OCA that results from a tyrosinase allele producing a temperature-sensitive enzyme. 1900307 1991
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 CausalMutation disease CLINVAR "Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism." 1903591 1991
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease CLINVAR "Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism." 1903591 1991
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease BEFREE Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. 1905879 1991
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 CausalMutation disease CLINVAR Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. 1905879 1991
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease BEFREE Biochemical analysis suggests that this is a tyrosinase-related type of oculocutaneous albinism. 1951438 1991
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease BEFREE This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals. 1970634 1990
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 CausalMutation disease CLINVAR A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. 1970634 1990
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 CausalMutation disease CLINVAR Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. 2342539 1990
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease CTD_human We have isolated and characterized the tyrosinase gene of one affected child (S.S.) with tyrosinase-negative OCA. 2511845 1989
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease BEFREE Molecular analysis of the DNA segments cross-hybridizable to the tyrosinase gene in patients affected with oculocutaneous albinism. 2517365 1989
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease BEFREE The implication of the tyrosinase assay results in light of the phenotype and the possible location of the pigment block in these forms of OCA are discussed. 3918447 1985
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease BEFREE The Hermansky-Pudlak Syndrome, a "tyrosinase positive' form of oculocutaneous albinism, is a triad comprising albinism, a hemorrhagic diathesis and ceroid-lipofuscin storage. 7298260 1981
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 CausalMutation disease CLINVAR Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. 7704033 1995
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease BEFREE Type II (tyrosinase-positive) OCA results from abnormalities of the 'P' polypeptide, which may be a melanosomal tyrosine transporter. 7849740 1994
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease BEFREE Here, we present an analysis of the TYR gene in eight Indo-Pakistani patients with type I OCA. 7902671 1993
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 CausalMutation disease CLINVAR Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). 7902671 1993