TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND Genetic background-dependent role of Egr1 for eyelid development. 28778995 2017
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.720 GeneticVariation disease BEFREE Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). 28667292 2017
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.720 CausalMutation disease CLINVAR Genotype analysis in a patient with oculocutaneous albinism 1 minimal pigment type. 21985232 2012
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 18326704 2008
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.720 GeneticVariation disease UNIPROT Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. 10987646 1999
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.720 GeneticVariation disease BEFREE Here we report a patient with type IB oculocutaneous albinism who is a compound heterozygote for TYR allele containing a mutation that is likely to affect pre-RNA splicing and a paternally inherited allele in which the TYR gene is completely deleted, the first such allele described to date. 8618053 1996
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.720 GeneticVariation disease UNIPROT Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. 8128955 1994
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.720 CausalMutation disease CLINVAR Mutational mapping of the catalytic activities of human tyrosinase. 1429711 1992
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.720 GeneticVariation disease UNIPROT "Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism." 1903591 1991
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.720 GeneticVariation disease UNIPROT A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse. 1900309 1991
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.720 CausalMutation disease CLINVAR Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. 2342539 1990
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.720 GeneticVariation disease CLINVAR
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.720 Biomarker disease CTD_human