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 / Organisms
congenital myopathy 18
Summary
- Definition
- A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32.
- Super Class
- autosomal dominant disease autosomal recessive disease congenital myopathy
External Links
- Disease Ontology
- DOID:0081350
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 34950 | Ca-alpha1D | Ca[2+]-channel protein alpha[[1]] subunit D |
