Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | GeneticVariation | disease | BEFREE | A critical transcription factor for RPE development and function is the microphthalmia-associated transcription factor MITF and its germline mutations are associated with clinically distinct disorders, including albinism, microphthalmia, retinal degeneration, and increased risk of developing melanoma. | 31242455 | 2019 | ||||
|
0.330 | GeneticVariation | disease | BEFREE | Although the candidate gene SLC45A2 is known to be involved in albinism in different species, to date in cattle only mutations in the TYR and MITF genes were reported to be associated with albinism or albinism-like phenotypes. | 28982372 | 2017 | ||||
|
0.330 | GeneticVariation | disease | BEFREE | MITF is a transcriptional activator of several genes which encode melanosome-localized proteins involved both in melanin synthesis and in melanosome biogenesis and transport, including genes whose mutations are associated with human oculocutaneous and ocular forms of albinism. | 20201954 | 2010 | ||||
|
0.330 | Biomarker | disease | MGD | Novel ENU-induced eye mutations in the mouse: models for human eye disease. | 11929848 | 2002 | ||||
|
0.330 | Biomarker | disease | MGD | Saturation mutagenesis for dominant eye morphological defects in the mouse Mus musculus. | 10886015 | 2000 | ||||
|
0.330 | Biomarker | disease | MGD | Mitfmi-enu122 is a missense mutation in the HLH dimerization domain. | 9501313 | 1998 | ||||
|
0.330 | Biomarker | disease | MGD | Mast cells in spotted mutant mice (W Ph mi). | 6127714 | 1982 | ||||
|
0.330 | Biomarker | disease | MGD | The relationship between abnormalities of pigmentation and of the inner ear. | 4392283 | 1970 | ||||
|
0.330 | Biomarker | disease | MGD | The eye and skeletal effects of two mutant alleles at the microphthalmia locus of Mus musculus. | 4963367 | 1967 | ||||
|
0.330 | Biomarker | disease | HPO |