Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
1.000 GeneticVariation disease 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
1.000 Biomarker disease 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
1.000 Biomarker disease 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
1.000 Biomarker disease 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
1.000 GeneticVariation disease 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
1.000 GeneticVariation disease 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
1.000 GeneticVariation disease 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
1.000 GeneticVariation disease 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
1.000 GeneticVariation disease 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
1.000 Biomarker disease 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
1.000 GeneticVariation disease 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