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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Meckel syndrome 4
Summary
- Synonym
-
- MKS4
- Meckel-Gruber syndrome, type 4
- Definition
- A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32.
- Super Class
- Meckel syndrome
External Links
- Disease Ontology
- DOID:0070118
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 378 | ARF4 | ADP ribosylation factor 4 | |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
| 5311 | PKD2 | polycystin 2, transient receptor potential cation channel | |
| 7369 | UMOD | uromodulin | |
| 79053 | ALG8 | ALG8 alpha-1,3-glucosyltransferase | |
| 79796 | ALG9 | ALG9 alpha-1,2-mannosyltransferase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07911 | Uromodulin | |
| P18085 | ADP-ribosylation factor 4 | |
| P98161 | Polycystin-1 | |
| Q13563 | Polycystin-2 | |
| Q9H6U8 | Alpha-1,2-mannosyltransferase ALG9 |
