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: 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) 		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 "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 GeneticVariation CLINVAR
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