| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.150 | Biomarker | disease | BEFREE | We have developed a computational procedure to determine the SNPs in the 3'UTR region of mRNA of OCA (TYR, OCA2, TYRP1 and SLC45A2) and OA (GPR143) genes which will be a potential cause for albinism. | 25060099 | 2014 | ||||
|
0.150 | Biomarker | disease | BEFREE | In our patient's melanocytes, the melanogenic protein TYRP1 showed aberrant localization, an increase in plasma-membrane trafficking, and a failure to reach melanosomes, explaining the boy's severe albinism and establishing his diagnosis as HPS-9. | 21665000 | 2011 | ||||
|
0.150 | GeneticVariation | disease | BEFREE | In one family, two siblings with a phenotypically unclassified form of albinism were found to be compound heterozygotes for mutations (S166X/368delA) at the TYRP1 locus and were heterozygous for a common 2.7-kb deletion in the P gene. | 9345097 | 1997 | ||||
|
0.150 | CausalMutation | disease | CLINVAR | "Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as ""OCA3""." | 8651291 | 1996 | ||||
|
0.150 | Biomarker | disease | BEFREE | Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". | 8651291 | 1996 | ||||
|
0.150 | GeneticVariation | disease | BEFREE | The critical role of tyrosinase (c-locus or human tyrosinase protein) in normal pigmentation and albinism has been reinforced by the cloning and identification of mutations in tyrosinase and two other melanocyte-specific oxidoreductases structurally related to but functionally different from tyrosinase: the (b) brown-locus protein/gp75/catalase B and dopachrome tautomerase. | 8433006 | 1993 | ||||
|
0.150 | GeneticVariation | disease | CLINVAR | |||||||
|
0.150 | Biomarker | disease | HPO |