TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894313
rs104894313
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.800 GeneticVariation UNIPROT Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. 8128955 1994
dbSNP: rs104894313
rs104894313
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.800 GeneticVariation UNIPROT Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. 10987646 1999
dbSNP: rs104894313
rs104894313
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894313
rs104894313
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.800 GeneticVariation UNIPROT "Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism." 1903591 1991
dbSNP: rs104894313
rs104894313
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.800 GeneticVariation 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
dbSNP: rs104894313
rs104894313
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs104894314
rs104894314
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.800 GeneticVariation UNIPROT Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. 8128955 1994
dbSNP: rs104894314
rs104894314
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.800 GeneticVariation 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
dbSNP: rs104894314
rs104894314
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.800 GeneticVariation UNIPROT Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. 10987646 1999
dbSNP: rs104894314
rs104894314
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs104894314
rs104894314
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.800 GeneticVariation UNIPROT "Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism." 1903591 1991
dbSNP: rs104894314
rs104894314
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894316
rs104894316
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.700 GeneticVariation UNIPROT Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. 10987646 1999
dbSNP: rs104894316
rs104894316
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.700 GeneticVariation UNIPROT Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. 8128955 1994
dbSNP: rs104894316
rs104894316
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.700 GeneticVariation UNIPROT "Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism." 1903591 1991
dbSNP: rs104894316
rs104894316
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.700 GeneticVariation 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
dbSNP: rs1126809
rs1126809
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121908011
rs121908011
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		A 0.700 CausalMutation CLINVAR Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. 2342539 1990
dbSNP: rs121908011
rs121908011
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		A 0.700 CausalMutation CLINVAR Mutational mapping of the catalytic activities of human tyrosinase. 1429711 1992
dbSNP: rs121908011
rs121908011
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		A 0.700 CausalMutation CLINVAR Genotype analysis in a patient with oculocutaneous albinism 1 minimal pigment type. 21985232 2012
dbSNP: rs145513733
rs145513733
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.700 GeneticVariation UNIPROT Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. 10987646 1999
dbSNP: rs145513733
rs145513733
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.700 GeneticVariation 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
dbSNP: rs145513733
rs145513733
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.700 GeneticVariation UNIPROT Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. 8128955 1994
dbSNP: rs145513733
rs145513733
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		0.700 GeneticVariation UNIPROT "Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism." 1903591 1991
dbSNP: rs28940876
rs28940876
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C1847024
Disease:
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		T 0.700 CausalMutation CLINVAR