Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. | 2342539 | 1990 |
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A | 0.700 | CausalMutation | CLINVAR | Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. | 1905879 | 1991 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutational mapping of the catalytic activities of human tyrosinase. | 1429711 | 1992 |
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|
A | 0.700 | CausalMutation | CLINVAR | Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. | 1642278 | 1992 |
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|
A | 0.700 | CausalMutation | CLINVAR | A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. | 8434585 | 1993 |
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|
A | 0.700 | CausalMutation | CLINVAR | Molecular analyses of a tyrosinase-negative albino family. | 8430701 | 1993 |
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|
A | 0.700 | CausalMutation | CLINVAR | The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. | 11284711 | 2001 |
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|
A | 0.700 | CausalMutation | CLINVAR | Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. | 18463683 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Molecular and clinical characterization of albinism in a large cohort of Italian patients. | 20861488 | 2011 |