| Disease ID | Disease name | Source of annotation with RDX | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS220290 | DEAFNESS, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 60 | CLIC5, KARS, OTOGL, CABP2, HGF, DFNB59, GIPC3, EPS8, MYO3A, CDH23, OTOF, ELMOD3, ESRRB, RDX, GJB2, GJB3, ESPN, ADCY1, CIB2, STRC, TMIE, S1PR2, FAM65B, TSPEAR, TBC1D24, SLC26A4, OTOG, COL11A2, MARVELD2, PNPT1, MYO15A, WHRN, CLDN14, MYO7A, GJB6, MET, TPRN, DCDC2, LRTOMT, TMC1, MYO6, ILDR1, MSRB3, SERPINB6, SLC26A5, ATP2B2, LHFPL5, SYNE4, GRXCR2, FOXI1, GRXCR1, LOXHD1, TECTA, PCDH15, TRIOBP, USH1C, KCNJ10, PTPRQ, TMPRSS3, OTOA |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Proteoglycans in cancer | hsa05205 | 5.02 |
| MicroRNAs in cancer | hsa05206 | 5.38 |
| Regulation of actin cytoskeleton | hsa04810 | 4.9 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Axon guidance | R-HSA-422475 | 3.93 |
| L1CAM interactions | R-HSA-373760 | 6.19 |
| Recycling pathway of L1 | R-HSA-437239 | 7.62 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| GO term | GO ID | GO IC |
|---|---|---|
| protein kinase A binding | GO:0051018 | 6.02 |
| protein binding | GO:0005515 | 0.46 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| ATPase binding | GO:0051117 | 5.41 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| enzyme binding | GO:0019899 | 2.27 |
| actin binding | GO:0003779 | 3.74 |
| identical protein binding | GO:0042802 | 2.63 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| RNA binding | GO:0003723 | 2.36 |
| protein dimerization activity | GO:0046983 | 2.72 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| protein domain specific binding | GO:0019904 | 3.32 |
| protein homodimerization activity | GO:0042803 | 3.16 |