×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.720
GeneticVariation
disease
CLINVAR
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.720
GeneticVariation
disease
UNIPROT
"Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism."
1903591
1991
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.720
GeneticVariation
disease
UNIPROT
Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.
10987646
1999
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.720
GeneticVariation
disease
UNIPROT
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
8128955
1994
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
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
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
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
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
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
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.720
Biomarker
disease
GENOMICS_ENGLAND
Genetic background-dependent role of Egr1 for eyelid development.
28778995
2017
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.720
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.720
Biomarker
disease
GENOMICS_ENGLAND
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
18326704
2008
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.720
Biomarker
disease
CTD_human
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.720
CausalMutation
disease
CLINVAR
Mutational mapping of the catalytic activities of human tyrosinase.
1429711
1992
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.720
CausalMutation
disease
CLINVAR
Genotype analysis in a patient with oculocutaneous albinism 1 minimal pigment type.
21985232
2012
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.720
CausalMutation
disease
CLINVAR
Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.
2342539
1990