Disease ID | Disease name | Source of annotation with BBS7 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS209900 | BARDET-BIEDL SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 23 | ARL6, BBS7, KIF7, BBS12, BBS2, BBIP1, TMEM67, LZTFL1, BBS4, TRIM32, MKKS, CCDC28B, WDPCP, CEP290, BBS9, TTC8, BBS10, TTC21B, BBS5, IFT27, MKS1, BBS1, SDCCAG8 |
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REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Cargo trafficking to the periciliary membrane | R-HSA-5620920 | 7.31 |
Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
BBSome-mediated cargo-targeting to cilium | R-HSA-5620922 | 8.46 |
Assembly of the primary cilium | R-HSA-5617833 | 5.44 |
GO term | GO ID | GO IC |
---|---|---|
RNA polymerase II transcription factor binding | GO:0001085 | 5.08 |
transcription factor binding | GO:0008134 | 3.46 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
RNA polymerase II repressing transcription factor binding | GO:0001103 | 6.44 |
repressing transcription factor binding | GO:0070491 | 5.71 |