| Disease ID | Disease name | Source of annotation with BEST1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS153840 | MACULAR DYSTROPHY, VITELLIFORM | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | PRPH2, IMPG1, IMPG2, BEST1 |
| 193220 | VITREORETINOCHOROIDOPATHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | BEST1 |
| 611809 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | BEST1 |
| 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 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Ion channel transport | R-HSA-983712 | 5.34 |
| Transmembrane transport of small molecules | R-HSA-382551 | 3.79 |
| Stimuli-sensing channels | R-HSA-2672351 | 6.28 |
| GO term | GO ID | GO IC |
|---|---|---|
| intracellular calcium activated chloride channel activity | GO:0005229 | 6.97 |
| substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| substrate-specific channel activity | GO:0022838 | 3.67 |
| organic anion transmembrane transporter activity | GO:0008514 | 5.31 |
| transporter activity | GO:0005215 | 2.57 |
| ion channel activity | GO:0005216 | 3.71 |
| chloride transmembrane transporter activity | GO:0015108 | 5.24 |
| ion transmembrane transporter activity | GO:0015075 | 3.04 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| channel activity | GO:0015267 | 3.6 |
| gated channel activity | GO:0022836 | 3.96 |
| inorganic anion transmembrane transporter activity | GO:0015103 | 4.87 |
| passive transmembrane transporter activity | GO:0022803 | 3.6 |
| ion gated channel activity | GO:0022839 | 5.98 |
| anion channel activity | GO:0005253 | 5.23 |
| chloride channel activity | GO:0005254 | 5.36 |
| bicarbonate transmembrane transporter activity | GO:0015106 | 6.79 |
| anion transmembrane transporter activity | GO:0008509 | 4.43 |