Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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A | 0.820 | CausalMutation | CLINVAR | ||||||
|
0.820 | GeneticVariation | UNIPROT | MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. | 18724368 | 2008 |
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0.820 | GeneticVariation | UNIPROT | Navajo microvillous inclusion disease is due to a mutation in MYO5B. | 19006234 | 2008 |
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0.820 | GeneticVariation | UNIPROT | Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. | 20186687 | 2010 |
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0.820 | GeneticVariation | UNIPROT | Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. | 21206382 | 2011 |
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0.820 | GeneticVariation | UNIPROT | Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity. | 24138727 | 2014 |
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0.820 | GeneticVariation | BEFREE | In patients with MVID, MYO5B-P660L results in global changes in polarity at the villus tips that could account for deficits in apical absorption, loss of microvilli, aberrant junctions, and losses in transcellular ion transport pathways, likely leading to the MVID clinical phenotype of neonatal secretory diarrhea. | 24892806 | 2014 |
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0.820 | GeneticVariation | UNIPROT | In patients with MVID, MYO5B-P660L results in global changes in polarity at the villus tips that could account for deficits in apical absorption, loss of microvilli, aberrant junctions, and losses in transcellular ion transport pathways, likely leading to the MVID clinical phenotype of neonatal secretory diarrhea. | 24892806 | 2014 |
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0.820 | GeneticVariation | BEFREE | These findings indicate that the effects of the P660L mutation in MYO5B in Navajo MVID patients are not limited to the small intestine, but that certain tissues may be able to compensate functionally for alterations in apical trafficking. | 29218485 | 2018 |