×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.900
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.900
Biomarker
disease
MGD
×
Entrez Id:
4948
Gene Symbol:
OCA2
OCA2
0.600
Biomarker
disease
MGD
×
Entrez Id:
51151
Gene Symbol:
SLC45A2
SLC45A2
0.600
Biomarker
disease
MGD
×
Entrez Id:
7306
Gene Symbol:
TYRP1
TYRP1
0.400
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
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
×
Entrez Id:
2078
Gene Symbol:
ERG
ERG
0.010
Biomarker
disease
BEFREE
The decreased ERG responses are discussed with reference to the known retinal abnormalities in both generalized oculocutaneous albinism and Batten's disease, another ceroid-lipofuscin storage disorder.
7298260
1981
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
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
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
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
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
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
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
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
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.900
CausalMutation
disease
CLINVAR
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.
1970634
1990
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.900
CausalMutation
disease
CLINVAR
Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.
2342539
1990
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.900
CausalMutation
disease
CLINVAR
"Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism."
1903591
1991
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.900
GeneticVariation
disease
BEFREE
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism .
1832718
1991
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.900
GeneticVariation
disease
BEFREE
Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism .
1905879
1991
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
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
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.900
GeneticVariation
disease
CLINVAR
"Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism."
1903591
1991
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.900
CausalMutation
disease
CLINVAR
Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.
1905879
1991
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.900
Biomarker
disease
BEFREE
Biochemical analysis suggests that this is a tyrosinase -related type of oculocutaneous albinism .
1951438
1991
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.900
Biomarker
disease
BEFREE
Homozygous tyrosinase gene mutation in an American black with tyrosinase -negative (type IA) oculocutaneous albinism .
1899321
1991
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.900
CausalMutation
disease
CLINVAR
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
1642278
1992
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.900
GeneticVariation
disease
CLINVAR
Mutational mapping of the catalytic activities of human tyrosinase.
1429711
1992
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
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
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.900
CausalMutation
disease
CLINVAR
Mutational mapping of the catalytic activities of human tyrosinase.
1429711
1992