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 4G
Summary
- Synonym
-
- CMT4G
- Charcot-Marie-Tooth neuropathy type 4G
- HMSNR
- autosomal recessive Charcot-Marie-Tooth disease type 4G
- hereditary motor and sensory neuropathy Russe type
- Definition
- A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22.
- Super Class
- Charcot-Marie-Tooth disease type 4 autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110196
- ORDO
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19367 | Hexokinase-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001155 | Abnormality of the hand |
| HP:0001284 | Areflexia |
| HP:0001760 | Abnormal foot morphology |
| HP:0001761 | Pes cavus |
| HP:0001762 | Talipes equinovarus |
| HP:0002141 | Gait imbalance |
| HP:0002355 | Difficulty walking |
| HP:0002495 | Impaired vibratory sensation |
| HP:0002505 | Loss of ambulation |
| HP:0002650 | Scoliosis |
