RAB7B, RAB7B, member RAS oncogene family, 338382

N. diseases: 65; N. variants: 0
Disease: Absent corpus callosum cataract immunodeficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855772
Disease: Absent corpus callosum cataract immunodeficiency
Absent corpus callosum cataract immunodeficiency 		0.020 Biomarker disease BEFREE Our study reveals that the RBG-1-RBG-2 complex acts by modulating the dynamics of membrane-associated RAB-7 to regulate lysosomal biogenesis, and provides insights into the pathogenesis of Vici syndrome. 31444285 2019
CUI: C1855772
Disease: Absent corpus callosum cataract immunodeficiency
Absent corpus callosum cataract immunodeficiency 		0.020 Biomarker disease BEFREE Our study reveals that EPG5 is a Rab7 effector involved in autophagosome maturation, providing insight into the molecular mechanism underlying Vici syndrome. 27588602 2016