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
congenital ptosis
Summary
- Definition
- A ptosis characterized by eyelid drop present at birth.
- Super Class
- physical disorder ptosis
External Links
- Disease Ontology
- DOID:0060261
- Mondo Disease Ontology
- UMLS
- NCI Thesaurus
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3423 | IDS | iduronate 2-sulfatase | |
| 4534 | MTM1 | myotubularin 1 | |
| 5160 | PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | |
| 5332 | PLCB4 | phospholipase C beta 4 | |
| 5648 | MASP1 | MBL associated serine protease 1 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6309 | SC5D | sterol-C5-desaturase | |
| 6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A | |
| 6392 | SDHD | succinate dehydrogenase complex subunit D | |
| 6519 | SLC3A1 | solute carrier family 3 member 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9P2R7 | Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial | |
| Q9UQE7 | Structural maintenance of chromosomes protein 3 | |
| Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta | |
| Q9Y6Z7 | Collectin-10 |
