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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
chromosome 16p11.2 deletion syndrome, 593-kb
Summary
- Synonym
-
- Proximal 16p11.2 microdeletion syndrome
- Definition
- A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).
- Super Class
- chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0070515
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 444 | ASPH | aspartate beta-hydroxylase | |
| 3797 | KIF3C | kinesin family member 3C | |
| 5531 | PPP4C | protein phosphatase 4 catalytic subunit | |
| 6311 | ATXN2 | ataxin 2 | |
| 6911 | TBX6 | T-box transcription factor 6 | |
| 8447 | DOC2B | double C2 domain beta | |
| 9344 | TAOK2 | TAO kinase 2 | |
| 10423 | CDIPT | CDP-diacylglycerol--inositol 3-phosphatidyltransferase | |
| 11273 | ATXN2L | ataxin 2 like | |
| 57551 | TAOK1 | TAO kinase 1 |
