Disease ID | Disease name | Source of annotation with CC2D2A | 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 |
PS249000 | MECKEL SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 12 | NPHP3, TMEM67, TMEM216, B9D2, CC2D2A, B9D1, RPGRIP1L, MKS1, CEP290, TCTN2, KIF14, TMEM231 |
216360 | COACH SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | TMEM67, RPGRIP1L, CC2D2A |
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 |