Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
Charcot-Marie-Tooth disease type 4J
Summary
- Synonym
-
- CMT4J
- autosomal recessive Charcot-Marie-Tooth disease type 4J
- Definition
- A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.
- Super Class
- Charcot-Marie-Tooth disease type 4 autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110184
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q92562 | Polyphosphoinositide phosphatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002460 | Distal muscle weakness |
| HP:0006466 | Ankle flexion contracture |
| HP:0001270 | Motor delay |
| HP:0003447 | Axonal loss |
| HP:0000762 | Decreased nerve conduction velocity |
| HP:0003383 | Onion bulb formation |
| HP:0003828 | Variable expressivity |
| HP:0001288 | Gait disturbance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003431 | Decreased motor nerve conduction velocity |
