Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation BEFREE Microvillus inclusion disease (MVID) is a severe form of neonatal diarrhea, caused mainly by mutations in MYO5B. 29218485

2018

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker BEFREE An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking. 26392529

2016

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker BEFREE Finally, we found that this loss of polarity was specific for MVID: tissue samples of patients with Myo5B-independent absorption disorders showed normal polarity but we identified Cdc42 as a potentially essential biomarker for trichohepatoenteric syndrome. 26526116

2016

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker BEFREE PDK1 was aberrantly localized in human MVID enterocytes and Myo5b-deficient Caco-2BBe cells. 25258405

2015

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker MGD Myo5b knockout mice as a model of microvillus inclusion disease. 26201991

2015

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker MGD Myo5b knockout mice closely resemble the phenotype of MVID patients and constitute a useful model to further investigate the underlying molecular mechanism of this disease and to preclinically assess the efficacy of novel therapeutic approaches. 26201991

2015

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker MGD Inherited MYO5B mutations have recently been associated with microvillus inclusion disease (MVID), an autosomal recessive syndrome characterized by intractable, life-threatening, watery diarrhea appearing shortly after birth. 26201991

2015

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation UNIPROT Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease. 24892806

2014

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation UNIPROT Microvillus inclusion disease (MVID) is a severe form of congenital diarrhea that arises from inactivating mutations in the gene encoding myosin Vb (MYO5B). 24892806

2014

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation UNIPROT Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity. 24138727

2014

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker BEFREE We also review animal models for MVID and the latest data on functional studies related to the myosin Vb protein. 24014347

2014

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation BEFREE Our aim was to investigate the mechanisms by which MYO5B mutations affect hepatic biliary function and lead to cholestasis in MVID patients. 24375397

2014

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker BEFREE Although myosin Vb is implicated in the organization of intracellular transport and cell surface polarity in epithelial cells, its precise role in the pathogenesis of MVID is unknown. 24138727

2014

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation UNIPROT MVID is caused by mutations in the MYO5B gene, coding for the myosin Vb motor protein. 24138727

2014

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation BEFREE Most patients with MVID have mutations in myosin Vb that cause defects in recycling of apical vesicles. 24726755

2014

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation UNIPROT Expression of WT MYO5B in MYO5B-KD cells restored microvilli; however, expression of MYO5B-P660L, a MVID-associated mutation found within Navajo populations, did not rescue the MYO5B-KD phenotype but induced formation of microvillus inclusions. 24892806

2014

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 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

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation BEFREE We observe a similar loss of the subapical enrichment of Rab11a and the kinases and reduced phosphorylation of ezrin in microvillus inclusion disease, which is associated with MYO5B mutations, intestinal microvilli atrophy and malabsorption. 24413175

2014

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation UNIPROT Although myosin Vb is implicated in the organization of intracellular transport and cell surface polarity in epithelial cells, its precise role in the pathogenesis of MVID is unknown. 24138727

2014

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation UNIPROT We performed correlative immunohistochemistry analyses of sections from duodenal biopsies of a MVID patient, compound heterozygous for two novel MYO5B mutations, predicting loss of function of myosin Vb in duodenal enterocytes together with a stable MYO5B CaCo2 RNAi cell system. 24138727

2014

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker BEFREE Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease. 24892806

2014

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation BEFREE MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome. 22441677

2012

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation UNIPROT Interestingly, several patients with MVID showed only a MYO5B mutation in 1 allele (heterozygous) or no mutations in the MYO5B gene, illustrating the need to further functionally characterize the cell biological effects of the MYO5B mutations. 21206382

2011

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation UNIPROT Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. 21206382

2011

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation UNIPROT Moreover, we report 8 novel MYO5B mutations in 9 patients of various ethnic backgrounds with MVID, including compound heterozygous mutations. 21206382

2011