Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.700 Biomarker disease BEFREE Thus, larval production of enzymatically active human tyrosinase potentially could be a useful tool in developing a cure for OCA1. 29870551 2018
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.700 GeneticVariation disease BEFREE Loss of function mutations in tyrosinase is the cause of oculocutaneous albinism 1. 12190874 2002
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.700 GeneticVariation disease BEFREE Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. 8618053 1996
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.700 Biomarker disease BEFREE We hypothesized that increasing plasma tyrosine concentrations using nitisinone, an FDA-approved inhibitor of tyrosine degradation, could stabilize tyrosinase and improve pigmentation in individuals with OCA1. 21968110 2011
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.700 GeneticVariation disease BEFREE A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. 24721949 2015
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.700 GeneticVariation disease BEFREE Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene. 15635296 2004
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.700 GeneticVariation disease BEFREE Defects in the tyrosinase gene (TYR) cause a common type of OCA, known as oculocutaneous albinism type 1 (OCA1). 16907708 2006
Entrez Id: 811
Gene Symbol: CALR
CALR 		0.010 Biomarker disease BEFREE The lack of specificity for calnexin interaction reveals a novel role for calreticulin in OCAI albinism. 15677452 2005
Entrez Id: 3309
Gene Symbol: HSPA5
HSPA5 		0.010 Biomarker disease BEFREE Taken together, these data show that OCAI soluble tyrosinase is an ER-associated degradation substrate that, unlike other albino tyrosinases, associates with calreticulin and BiP/GRP78. 15677452 2005
Entrez Id: 821
Gene Symbol: CANX
CANX 		0.010 Biomarker disease BEFREE The lack of specificity for calnexin interaction reveals a novel role for calreticulin in OCAI albinism. 15677452 2005
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.700 GeneticVariation disease CLINVAR Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations. 26167114 2015
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.700 Biomarker disease CTD_human Identification of active site residues involved in metal cofactor binding and stereospecific substrate recognition in Mammalian tyrosinase. Implications to the catalytic cycle. 11781109 2002
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.700 Biomarker disease GENOMICS_ENGLAND