RAB7B, RAB7B, member RAS oncogene family, 338382

N. diseases: 65; N. variants: 0
Disease: Neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.060 GeneticVariation group BEFREE Surprisingly, Rab18 colocalizes, cofractionates, and coprecipitates with the lysosomal regulator Rab7, mutations of which cause Charcot-Marie-Tooth (CMT) neuropathy type 2B. 30721447 2019
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.060 GeneticVariation group BEFREE Four missense mutations in the gene encoding the small GTPase Rab7 cause the CMT2B neuropathy. 23176482 2012
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.060 GeneticVariation group BEFREE Consistently, mutations or dysfunctions of Rab7 result in traffic disorders, which cause various diseases, such as neuropathy, cancer and lipid metabolism disease. 19392663 2009
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.060 GeneticVariation group BEFREE To screen persons with dominantly inherited HSAN I and others with idiopathic sensory neuropathies for known mutations of SPTLC1 and RAB7. 15965219 2005
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.060 GeneticVariation group BEFREE A novel RAB7 mutation associated with ulcero-mutilating neuropathy. 15455439 2004
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.060 Biomarker group BEFREE Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. 12545426 2003