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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Williams-Beuren syndrome
Summary
- Synonym
-
- Fanconi Schlesinger syndrome
- WBS
- Definition
- A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.
- Super Class
- autosomal dominant disease chromosomal deletion syndrome syndrome
External Links
- Disease Ontology
- DOID:1928
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2006 | ELN | elastin | |
| 2969 | GTF2I | general transcription factor IIi | |
| 3985 | LIMK2 | LIM domain kinase 2 | |
| 4015 | LOX | lysyl oxidase | |
| 4839 | NOP2 | NOP2 nucleolar protein | |
| 6714 | SRC | SRC proto-oncogene, non-receptor tyrosine kinase | |
| 7458 | EIF4H | eukaryotic translation initiation factor 4H | |
| 7461 | CLIP2 | CAP-Gly domain containing linker protein 2 | |
| 7976 | FZD3 | frizzled class receptor 3 | |
| 8326 | FZD9 | frizzled class receptor 9 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 13385 | Dlg4 | discs large MAGUK scaffold protein 4 | |
| 14365 | Fzd3 | frizzled class receptor 3 | |
| 14371 | Fzd9 | frizzled class receptor 9 | |
| 16885 | Limk1 | LIM domain kinase 1 | |
| 16948 | Lox | lysyl oxidase | |
| 20779 | Src | Rous sarcoma oncogene | |
| 269713 | Clip2 | CAP-GLY domain containing linker protein 2 |
