| Disease ID | Disease name | Source of annotation with SEMA4A | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 610283 | CONE-ROD DYSTROPHY 10 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SEMA4A |
| 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
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Axon guidance | hsa04360 | 5.63 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Semaphorin interactions | R-HSA-373755 | 6.92 |
| Axon guidance | R-HSA-422475 | 3.93 |
| Other semaphorin interactions | R-HSA-416700 | 8.73 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| GO term | GO ID | GO IC |
|---|---|---|
| neuropilin binding | GO:0038191 | 7.03 |
| semaphorin receptor binding | GO:0030215 | 6.65 |
| chemorepellent activity | GO:0045499 | 6.44 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| receptor binding | GO:0005102 | 2.43 |