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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
ciliopathy
Summary
- Definition
- A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
- Super Class
- monogenic disease syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5311 | PKD2 | polycystin 2, transient receptor potential cation channel | |
| 5592 | PRKG1 | protein kinase cGMP-dependent 1 | |
| 10253 | SPRY2 | sprouty RTK signaling antagonist 2 | |
| 23322 | RPGRIP1L | RPGRIP1 like | |
| 27130 | INVS | inversin | |
| 54862 | CC2D1A | coiled-coil and C2 domain containing 1A | |
| 57545 | CC2D2A | coiled-coil and C2 domain containing 2A | |
| 79819 | DNAI4 | dynein axonemal intermediate chain 4 | |
| 83659 | TEKT1 | tektin 1 | |
| 91147 | TMEM67 | transmembrane protein 67 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 12858 | Cox5a | cytochrome c oxidase subunit 5A | |
| 18764 | Pkd2 | polycystin 2, transient receptor potential cation channel | |
| 24064 | Spry2 | sprouty RTK signaling antagonist 2 | |
| 56297 | Arl6 | ADP-ribosylation factor-like 6 | |
| 74477 | 4933427D14Rik | RIKEN cDNA 4933427D14 gene | |
| 212139 | Cc2d1a | coiled-coil and C2 domain containing 1A | |
| 216274 | Cep290 | centrosomal protein 290 | |
| 329795 | Tmem67 | transmembrane protein 67 |
