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Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Charcot-Marie-Tooth disease type 2
NEFL
Unknown
—
ClinGen
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
Unblocking of NMDA receptors, glutamate binding and activation
RAF/MAP kinase cascade
+1 more
RAB7A
Unknown
—
ClinGen
Mitophagy - animal
Autophagy - animal
Endocytosis
Phagosome
Efferocytosis
Salmonella infection
Amoebiasis
Tuberculosis
MHC class II antigen presentation
Neutrophil degranulation
TBC/RABGAPs
RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs
Prevention of phagosomal-lysosomal fusion
Suppression of autophagy
+12 more
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
2
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Diseases that share the most curated genes with Charcot-Marie-Tooth disease type 2.
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Congenital pes cavus
1 shared gene
NEFL
Related via 1 shared gene including NEFL.
Auditory neuropathy
1 shared gene
NEFL
Related via 1 shared gene including NEFL.
Distal spinal muscular atrophy
1 shared gene
NEFL
Related via 1 shared gene including NEFL.
Hereditary motor and sensory neuropathies
2 shared genes
RAB7A, NEFL
Related via 2 shared genes including RAB7A, NEFL.
Distal hereditary motor neuropathy
1 shared gene
NEFL
Related via 1 shared gene including NEFL.
1
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