RAB7A, RAB7A, member RAS oncogene family, 7879

N. diseases: 95; N. variants: 5
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909080
rs121909080
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
CUI: C1833219
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		0.800 GeneticVariation UNIPROT Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling. 21151572 2010
dbSNP: rs121909080
rs121909080
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
CUI: C1833219
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		0.800 GeneticVariation UNIPROT Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation. 20028791 2010
dbSNP: rs121909080
rs121909080
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
CUI: C1833219
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		0.800 GeneticVariation UNIPROT Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene. 17060578 2006
dbSNP: rs121909080
rs121909080
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
CUI: C1833219
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		0.800 GeneticVariation UNIPROT A novel RAB7 mutation associated with ulcero-mutilating neuropathy. 15455439 2004
dbSNP: rs121909080
rs121909080
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
CUI: C1833219
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		0.800 GeneticVariation UNIPROT Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. 12545426 2003
dbSNP: rs121909080
rs121909080
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
CUI: C1833219
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		C 0.800 CausalMutation CLINVAR