| Disease ID | Disease name | Source of annotation with MYO6 | 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 |
| PS124900 | DEAFNESS, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 33 | GJB2, DIAPH1, DFNA5, CEACAM16, CRYM, CCDC50, GJB3, KCNQ4, POU4F3, SLC17A8, MYO1A, TBC1D24, MYO7A, COL11A2, MIR96, GJB6, OSBPL2, TMC1, MYO6, P2RX2, EYA4, ACTG1, HOMER2, SIX1, WFS1, KITLG, DIABLO, COCH, TECTA, GRHL2, MYH14, TNC, MYH9 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity | R-HSA-399721 | 8.08 |
| Gap junction trafficking | R-HSA-190828 | 7.59 |
| Membrane Trafficking | R-HSA-199991 | 5.26 |
| Gap junction degradation | R-HSA-190873 | 9.4 |
| Gap junction trafficking and regulation | R-HSA-157858 | 7.52 |
| Neuronal System | R-HSA-112316 | 4.82 |
| Trafficking of AMPA receptors | R-HSA-399719 | 8.08 |
| Transmission across Chemical Synapses | R-HSA-112315 | 5.28 |
| Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell | R-HSA-112314 | 5.85 |
| Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| minus-end directed microfilament motor activity | GO:0060001 | 9.74 |
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleoside binding | GO:0001882 | 2.21 |
| microfilament motor activity | GO:0000146 | 6.65 |
| nucleotide binding | GO:0000166 | 1.96 |
| actin binding | GO:0003779 | 3.74 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| protein complex binding | GO:0032403 | 3.09 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| motor activity | GO:0003774 | 4.81 |
| ATP binding | GO:0005524 | 2.43 |
| hydrolase activity | GO:0016787 | 1.9 |
| nucleoside-triphosphatase activity | GO:0017111 | 3.09 |
| actin filament binding | GO:0051015 | 4.93 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| ADP binding | GO:0043531 | 6.24 |
| hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | GO:0016818 | 3.03 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| hydrolase activity, acting on acid anhydrides | GO:0016817 | 3.03 |
| pyrophosphatase activity | GO:0016462 | 3.04 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| calmodulin binding | GO:0005516 | 4.55 |
| protein binding | GO:0005515 | 0.46 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |