Disease ID | Disease name | Source of annotation with TCTN3 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS213300 | JOUBERT SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 27 | TCTN1, C5orf42, PDE6D, ARL13B, KIF7, TMEM231, TMEM67, KIAA0586, CC2D2A, MKS1, CEP104, AHI1, CEP41, ZNF423, EXOC8, CEP290, TCTN3, NPHP1, INPP5E, OFD1, TMEM237, TMEM216, KIAA0556, CSPP1, TMEM138, RPGRIP1L, TCTN2 |
258860 | OROFACIODIGITAL SYNDROME IV | ClinVar, OMIM | link to OMIM | 1 | TCTN3 |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Anchoring of the basal body to the plasma membrane | R-HSA-5620912 | 6.51 |
Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
Assembly of the primary cilium | R-HSA-5617833 | 5.44 |