Gene: MYO5B ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B 		0.330 Biomarker disease BEFREE MYO5B deficiency appears to impair targeting of BSEP to the canalicular membrane with hampered bile acid excretion, resulting in a spectrum of cholestasis without diarrhea.(Hepatology 2017;65:1655-1669). 28027573 2017
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B 		0.330 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 		0.330 GeneticVariation disease 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 		0.330 Biomarker disease GENOMICS_ENGLAND MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. 18724368 2008