| Disease ID | Disease name | Source of annotation with NEK2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS268000 | RETINITIS PIGMENTOSA | OMIM | 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 |
|---|---|---|
| Recruitment of mitotic centrosome proteins and complexes | R-HSA-380270 | 6.68 |
| APC/C-mediated degradation of cell cycle proteins | R-HSA-174143 | 6.61 |
| APC/C:Cdc20 mediated degradation of mitotic proteins | R-HSA-176409 | 6.81 |
| Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins | R-HSA-176814 | 6.79 |
| Regulation of PLK1 Activity at G2/M Transition | R-HSA-2565942 | 6.66 |
| Loss of proteins required for interphase microtubule organization from the centrosome | R-HSA-380284 | 7.03 |
| Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
| Loss of Nlp from mitotic centrosomes | R-HSA-380259 | 7.03 |
| Mitotic G2-G2/M phases | R-HSA-453274 | 6.04 |
| Regulation of mitotic cell cycle | R-HSA-453276 | 6.61 |
| APC-Cdc20 mediated degradation of Nek2A | R-HSA-179409 | 8.46 |
| Anchoring of the basal body to the plasma membrane | R-HSA-5620912 | 6.51 |
| Cell Cycle, Mitotic | R-HSA-69278 | 4.16 |
| APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint | R-HSA-179419 | 6.85 |
| Cell Cycle | R-HSA-1640170 | 3.89 |
| Assembly of the primary cilium | R-HSA-5617833 | 5.44 |
| Centrosome maturation | R-HSA-380287 | 6.68 |
| G2/M Transition | R-HSA-69275 | 6.06 |
| GO term | GO ID | GO IC |
|---|---|---|
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| enzyme binding | GO:0019899 | 2.27 |
| binding | GO:0005488 | 0.18 |
| nucleotide binding | GO:0000166 | 1.96 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleoside binding | GO:0001882 | 2.21 |
| cation binding | GO:0043169 | 1.4 |
| ion binding | GO:0043167 | 1.36 |
| protein serine/threonine kinase activity | GO:0004674 | 3.64 |
| transferase activity | GO:0016740 | 1.95 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| metal ion binding | GO:0046872 | 1.41 |
| ATP binding | GO:0005524 | 2.43 |
| kinase activity | GO:0016301 | 2.93 |
| protein kinase activity | GO:0004672 | 3.27 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| protein phosphatase binding | GO:0019903 | 4.93 |
| phosphatase binding | GO:0019902 | 4.63 |
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| protein binding | GO:0005515 | 0.46 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |