| Disease ID | Disease name | Source of annotation with TULP1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS204000 | LEBER CONGENITAL AMAUROSIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 19 | PRPH2, TULP1, LRAT, SPATA7, CEP290, RDH12, RPE65, CRX, GDF6, RPGRIP1, GUCY2D, CRB1, ROM1, KCNJ13, RD3, NMNAT1, LCA5, IMPDH1, AIPL1 |
| 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 |
|---|---|---|
| phosphatidylinositol bisphosphate binding | GO:1902936 | 5.79 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| phosphatidylinositol binding | GO:0035091 | 4.47 |
| phospholipid binding | GO:0005543 | 3.91 |
| lipid binding | GO:0008289 | 3.26 |
| actin filament binding | GO:0051015 | 4.93 |
| actin binding | GO:0003779 | 3.74 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| phosphatidylinositol phosphate binding | GO:1901981 | 5.05 |
| protein complex binding | GO:0032403 | 3.09 |
| phosphatidylinositol-4,5-bisphosphate binding | GO:0005546 | 5.81 |