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 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 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 Biomarker disease GENOMICS_ENGLAND MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. 18724368 2008
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