MYO5B, myosin VB, 4645

N. diseases: 60; N. variants: 21
Disease: Progressive intrahepatic cholestasis (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.020 GeneticVariation disease BEFREE This genotype-phenotype correlation and the mechanism via which MYO5B mutations give rise to PFIC are not understood. 31750554 2019
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.020 Biomarker disease BEFREE In the last 5 years, new genetic disorders, such as TJP2, FXR, and MYO5B defects, have been demonstrated to cause a similar PFIC phenotype. 30367658 2018