Disease ID | Disease name | Source of annotation with BBS2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS268000 | RETINITIS PIGMENTOSA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 69 | PDE6A, MAK, FSCN2, DHDDS, RHO, RP9, CNGA1, CRB1, SLC7A14, BEST1, CERKL, PRPF3, C8orf37, PROM1, TOPORS, PRPH2, PRCD, SNRNP200, IMPG2, PDE6B, IDH3B, RGR, TTC8, GUCA1B, CDHR1, PANK2, RDH12, BBS2, MERTK, RP1L1, NEK2, USH2A, ZNF408, LRAT, C2orf71, MYO7A, KLHL7, IMPDH1, ZNF513, RP1, NR2E3, PDE6G, ROM1, CYGB, ARL6, NRL, RPGR, PRPF4, RP2, IFT172, HGSNAT, TULP1, CNGB1, KIZ, EYS, OFD1, RPE65, PRPF6, FAM161A, RBP3, IFT140, PRPF8, ABCA4, CLRN1, PRPF31, SAG, CA4, CRX, SEMA4A |
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 |
Download the gene annotation in CSV format
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 |