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 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 CausalMutation disease CLINVAR Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. 8128955 1994
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 AlteredExpression disease BEFREE The criteria were the presence of oculocutaneous albinism in association with low hairbulb tyrosinase activity in the patient and disparate activity in the parents with one parent having normal activity and the other having low tyrosinase activity. 8190479 1994
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease BEFREE To date, two different types of OCA (OCA1 and OCA2) have been mapped to specific chromosomal regions. 7963676 1994
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease BEFREE Among Moroccan Jews with type IA (i.e., tyrosinase-negative) OCA, we detected a highly predominant mutant allele containing a missense substitution, Gly47Asp (G47D). 8128955 1994
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease BEFREE When a mutated tyrosinase gene produces inactive, less active, or temperature-sensitive tyrosinase, its phenotype is tyrosinase-negative (type I-A), yellow-mutant (type I-B), or temperature-sensitive (type I-TS) OCA, respectively. 8129415 1994
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease BEFREE This procedure, the analysis of the fetal genomic tyrosinase DNA, is a rapid and reliable approach to the prenatal diagnosis of oculocutaneous albinism at a relatively early stage of pregnancy and is safer and less invasive than previous methods using fetal skin biopsy. 8027570 1994
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 AlteredExpression disease BEFREE We conclude that this mutation of the human TRP-1 gene affects its interaction with tyrosinase, resulting in dysregulation of tyrosinase activity, promotes the synthesis of brown versus black melanin, and is responsible for a third genetic type of OCA in humans, which we classify as "OCA3." 8651291 1996
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease BEFREE Mutations in the tyrosinase gene established the diagnosis of oculocutaneous albinism 1 even though the patient had atypical clinical features. 8644824 1996
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease BEFREE We identified five different mutations in the TYR gene in 4 patients with severe OCA and in 2 patients with mild OCA, but found no mutations in the 6 patients with mild OCA phenotypes. 9163730 1997
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease CTD_human Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 9158138 1997
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease CLINVAR Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism. 9163730 1997
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease BEFREE We now describe a cluster of tyrosinase positive OCA (OCA2) cases belonging to the Tonga ethnic group living in the Zambezi valley of northern Zimbabwe. 9321758 1997
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease BEFREE Tyrosinase-positive OCA (OCA2), which is the most common, affects approximately 1/3,900 newborns and has a carrier frequency of approximately 1/33. 9345097 1997
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease CLINVAR Mutational analysis of copper binding by human tyrosinase. 9242509 1997
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease BEFREE The aim of this study was to facilitate the sequence-based diagnosis of tyrosinase-related OCA by using small amounts of the patient's blood. 9568405 1998
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease BEFREE Sequence analysis of the tyrosinase (TYR) coding region from one albino rhesus monkey (Macaca mulatta) family revealed that the two monkeys with phenotype similar to human TYR-negative oculocutaneous albinism (OCA) were homozygous for a missense mutation (S184TER) in exon 1 at codon 184. 10751629 2000
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease BEFREE We determined the tyrosinase activity in melanocytes by the electron microscopic dihydroxyphenylalanine (EM-DOPA) reaction test using skin samples and analyzed tyrosinase gene mutations in nine Japanese patients with OCA. 10929771 2000
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease BEFREE Loss-of-function mutations in tyrosinase are the cause of oculocutaneous albinism, demonstrating the importance of the enzyme in pigmentation. 10823941 2000
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease BEFREE Oculocutaneous albinism 1 is associated with the tyrosinase gene. 10960773 2000
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease BEFREE We found five novel mutations in the tyrosinase gene involved in the pathogenesis of oculocutaneous albinism type IA or type IB (OCA-1A/B) in five unrelated patients. 11295837 2001
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 CausalMutation disease CLINVAR The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. 11284711 2001
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 GeneticVariation disease CLINVAR The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. 11284711 2001
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.900 Biomarker disease BEFREE Analysis of the TYR and P genes in patients with OCA suggests that other genes may be associated with OCA. 11574907 2001