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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 |
|---|---|---|---|
| 26503 | SLC17A5 | solute carrier family 17 member 5 | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 54936 | ADPRS | ADP-ribosylserine hydrolase | |
| 55768 | NGLY1 | N-glycanase 1 | |
| 56623 | INPP5E | inositol polyphosphate-5-phosphatase E | |
| 64419 | MTMR14 | myotubularin related protein 14 | |
| 78989 | COLEC11 | collectin subfamily member 11 | |
| 85365 | ALG2 | ALG2 alpha-1,3/1,6-mannosyltransferase | |
| 145173 | B3GLCT | beta 3-glucosyltransferase | |
| 199857 | ALG14 | ALG14 UDP-N-acetylglucosaminyltransferase subunit |
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 |
