| Disease ID | Disease name | Source of annotation with MAK | 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 |
Download the gene annotation in CSV format
| GO term | GO ID | GO IC |
|---|---|---|
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| binding | GO:0005488 | 0.18 |
| cyclin-dependent protein serine/threonine kinase activity | GO:0004693 | 6.21 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| nucleoside binding | GO:0001882 | 2.21 |
| cyclin-dependent protein kinase activity | GO:0097472 | 6.21 |
| transcription coactivator activity | GO:0003713 | 4.04 |
| transcription cofactor activity | GO:0003712 | 3.44 |
| nucleotide binding | GO:0000166 | 1.96 |
| protein serine/threonine kinase activity | GO:0004674 | 3.64 |
| transferase activity | GO:0016740 | 1.95 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| transcription factor activity, transcription factor binding | GO:0000989 | 3.36 |
| transcription factor activity, protein binding | GO:0000988 | 3.35 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| protein kinase activity | GO:0004672 | 3.27 |
| ATP binding | GO:0005524 | 2.43 |
| kinase activity | GO:0016301 | 2.93 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| protein binding | GO:0005515 | 0.46 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |