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 Loss-of-function mutations in the nonconventional myosin Vb (Myo5b) result in microvillus inclusion disease (MVID) and massive secretory diarrhea that often begins at birth. 31664880

2019

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

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation BEFREE Examination of altered apical trafficking in patients with Microvillus Inclusion disease caused by inactivating mutations in MYO5B has led to insights into the regulation of apical trafficking by elements of the apical recycling system. 28264818

2018

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation BEFREE Inactivating mutations in MYO5B cause microvillus inclusion disease (MVID), but the physiological cause of the diarrhea associated with this disease is unclear. 30144427

2018

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker GENOMICS_ENGLAND Animal models have been generated that formally prove the causality between MYO5B and MVID. 29266534

2018

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation BEFREE MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease. 27532546

2017

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker BEFREE The present study used Myo5b loss-of-function human MVID intestine, polarized intestinal cell models of secretory crypt (T84) and villus resembling (CaCo2BBe, C2BBe) enterocytes lacking Myo5b in conjunction with immunofluorescence confocal stimulated emission depletion (gSTED) imaging, immunohistochemical staining, transmission electron microscopy, shRNA silencing, immunoblots, and electrophysiological approaches to examine the distribution, expression, and function of the major BB ion transporters NHE3 (Na(+)), CFTR (Cl(-)), and SLC26A3 (DRA) (Cl(-)/HCO3 (-)) that control intestinal fluid transport. 27229121

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 GeneticVariation BEFREE We propose that the zebrafish gsp/myoVb mutant is a valuable model to study the pathophysiology of MVID. 27497746

2016

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation BEFREE Mutations in the myosin Vb gene (MYO5B) have been identified in the majority of MVID patients. 26392529

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 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 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 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 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 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 Biomarker BEFREE PDK1 was aberrantly localized in human MVID enterocytes and Myo5b-deficient Caco-2BBe cells. 25258405

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 We also review animal models for MVID and the latest data on functional studies related to the myosin Vb protein. 24014347

2013

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 MVID with renal Fanconi syndrome do not correlate with aberrant apical plasma membrane morphology or altered apical recycling endosome organization in renal tubular epithelial cells. 22441677

2012

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker BEFREE Our functional analysis indicates that MYO5B mutations can be correlated with an aberrant subcellular distribution of the myosin Vb protein, and apical recycling endosomes, which, together with the additional compound heterozygous mutations, significantly strengthen the link between MYO5B and MVID. 21206382

2011

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation UNIPROT Our functional analysis indicates that MYO5B mutations can be correlated with an aberrant subcellular distribution of the myosin Vb protein, and apical recycling endosomes, which, together with the additional compound heterozygous mutations, significantly strengthen the link between MYO5B and MVID. 21206382

2011

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker BEFREE Our data indicate that MYO5B mutations are a major cause of microvillus inclusion disease and that MYO5B knock-down recapitulates most of the cellular phenotype in vitro, thus independently showing loss of MYO5B function as the cause of microvillus inclusion disease. 20186687

2010

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation BEFREE Molecular analysis of the MYO5B gene is helpful in genetic counseling and prenatal diagnosis of recurrent microvillus inclusion disease in subsequent pregnancies. 21199752

2010