Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Joubert syndrome 1
Summary
- Synonym
-
- CORS1
- CPD4
- JBTS1
- cerebellooculorenal syndrome 1
- cerebelloparenchymal disorder IV
- Definition
- A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.
- Super Class
- Joubert syndrome
External Links
- Disease Ontology
- DOID:0110980
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15056 | Synaptojanin-2 | |
| O43426 | Synaptojanin-1 | |
| P32019 | Type II inositol 1,4,5-trisphosphate 5-phosphatase | |
| P54840 | Glycogen [starch] synthase, liver | |
| Q9NRR6 | Phosphatidylinositol polyphosphate 5-phosphatase type IV |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001251 | Ataxia |
| HP:0002876 | Episodic tachypnea |
| HP:0000508 | Ptosis |
| HP:0002084 | Encephalocele |
| HP:0000369 | Low-set ears |
| HP:0002269 | Abnormality of neuronal migration |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0000238 | Hydrocephalus |
