Disease ID | Disease name | Source of annotation with B9D1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS249000 | MECKEL SYNDROME | ClinVar, OMIM | link to OMIM | 12 | NPHP3, TMEM67, TMEM216, B9D2, CC2D2A, B9D1, RPGRIP1L, MKS1, CEP290, TCTN2, KIF14, TMEM231 |
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 |
GO term | GO ID | GO IC |
---|---|---|
signaling receptor activity | GO:0038023 | 2.49 |
molecular transducer activity | GO:0060089 | 2.32 |
transmembrane signaling receptor activity | GO:0004888 | 2.57 |
receptor activity | GO:0004872 | 2.32 |
signal transducer activity | GO:0004871 | 2.28 |
hedgehog receptor activity | GO:0008158 | 8.64 |
transmembrane receptor activity | GO:0099600 | 2.53 |