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: rs121909078
rs121909078
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
CUI: C1833219
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		0.820 GeneticVariation BEFREE Here we developed the first animal model of CMT2B, modelling one of the mutations (L129F) in Drosophila melanogaster. 24521780 2014
dbSNP: rs121909078
rs121909078
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
CUI: C1833219
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		0.820 GeneticVariation UNIPROT Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling. 21151572 2010
dbSNP: rs121909078
rs121909078
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
CUI: C1833219
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		0.820 GeneticVariation UNIPROT Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation. 20028791 2010
dbSNP: rs121909078
rs121909078
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
CUI: C1833219
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		0.820 GeneticVariation UNIPROT Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene. 17060578 2006
dbSNP: rs121909078
rs121909078
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
CUI: C1833219
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		0.820 GeneticVariation UNIPROT A novel RAB7 mutation associated with ulcero-mutilating neuropathy. 15455439 2004
dbSNP: rs121909078
rs121909078
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
CUI: C1833219
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		0.820 GeneticVariation BEFREE We refined the CMT2B locus to a 2.5-cM region and report two missense mutations (Leu129Phe and Val162Met) in the small GTP-ase late endosomal protein RAB7 which causes the CMT2B phenotype in three extended families and in three patients with a positive family history. 12545426 2003
dbSNP: rs121909078
rs121909078
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
CUI: C1833219
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		0.820 GeneticVariation UNIPROT We refined the CMT2B locus to a 2.5-cM region and report two missense mutations (Leu129Phe and Val162Met) in the small GTP-ase late endosomal protein RAB7 which causes the CMT2B phenotype in three extended families and in three patients with a positive family history. 12545426 2003
dbSNP: rs121909078
rs121909078
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
CUI: C1833219
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		T 0.820 CausalMutation CLINVAR