| Disease ID | Disease name | Source of annotation with DNM2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS160150 | MYOPATHY, CENTRONUCLEAR | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | DNM2, CCDC78, BIN1, MTMR14, TTN, MYF6 |
| PS118220 | CHARCOT-MARIE-TOOTH DISEASE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 48 | KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, NEFL, GJB1, VCP, GDAP1, AIFM1, IGHMBP2, SH3TC2, TRIM2, JPH1, PLEKHG5, NEFH, NAGLU, TRPV4, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, DNM2, NDRG1, MARS, SBF2, RAB7A, MORC2, AARS, COX6A1, PDK3, DHTKD1, HK1, LMNA, LRSAM1, EGR2, PRX, MTMR2, LITAF, MFN2, YARS, GARS |
| 310400 | MYOPATHY, CENTRONUCLEAR, X-LINKED | ClinVar | link to OMIM | 2 | DNM2, MTM1 |
| PS253310 | LETHAL CONGENITAL CONTRACTURE SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 9 | MYBPC1, ZBTB42, ERBB3, GLE1, ADGRG6, CNTNAP1, DNM2, PIP5K1C, ADCY6 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Synaptic vesicle cycle | hsa04721 | 6.74 |
| Endocrine and other factor-regulated calcium reabsorption | hsa04961 | 7.12 |
| Bacterial invasion of epithelial cells | hsa05100 | 6.34 |
| Endocytosis | hsa04144 | 4.92 |
| Fc gamma R-mediated phagocytosis | hsa04666 | 6.21 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Gap junction trafficking and regulation | R-HSA-157858 | 7.52 |
| Immune System | R-HSA-168256 | 2.37 |
| Recycling pathway of L1 | R-HSA-437239 | 7.62 |
| Clathrin derived vesicle budding | R-HSA-421837 | 6.85 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Lysosome Vesicle Biogenesis | R-HSA-432720 | 7.85 |
| Adaptive Immune System | R-HSA-1280218 | 3.19 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| Signalling by NGF | R-HSA-166520 | 4.23 |
| Gap junction trafficking | R-HSA-190828 | 7.59 |
| Metabolism of nitric oxide | R-HSA-202131 | 8.81 |
| Toll-Like Receptors Cascades | R-HSA-168898 | 5.91 |
| L1CAM interactions | R-HSA-373760 | 6.19 |
| Toll Like Receptor 4 (TLR4) Cascade | R-HSA-166016 | 6.11 |
| Innate Immune System | R-HSA-168249 | 3.17 |
| eNOS activation and regulation | R-HSA-203765 | 8.81 |
| Membrane Trafficking | R-HSA-199991 | 5.26 |
| Gap junction degradation | R-HSA-190873 | 9.4 |
| trans-Golgi Network Vesicle Budding | R-HSA-199992 | 6.85 |
| NOSTRIN mediated eNOS trafficking | R-HSA-203641 | 10.66 |
| Retrograde neurotrophin signalling | R-HSA-177504 | 9.28 |
| NGF signalling via TRKA from the plasma membrane | R-HSA-187037 | 4.51 |
| Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
| Formation of annular gap junctions | R-HSA-196025 | 9.52 |
| MHC class II antigen presentation | R-HSA-2132295 | 6.01 |
| Golgi Associated Vesicle Biogenesis | R-HSA-432722 | 7.23 |
| Axon guidance | R-HSA-422475 | 3.93 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| SH3 domain binding | GO:0017124 | 4.98 |
| enzyme binding | GO:0019899 | 2.27 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| G-protein coupled receptor binding | GO:0001664 | 4.18 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleoside binding | GO:0001882 | 2.21 |
| pyrophosphatase activity | GO:0016462 | 3.04 |
| phosphatidylinositol 3-kinase binding | GO:0043548 | 6.41 |
| small molecule binding | GO:0036094 | 1.89 |
| nucleotide binding | GO:0000166 | 1.96 |
| guanyl ribonucleotide binding | GO:0032561 | 3.73 |
| 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 |
| GTP binding | GO:0005525 | 3.78 |
| hydrolase activity | GO:0016787 | 1.9 |
| tubulin binding | GO:0015631 | 4.1 |
| D2 dopamine receptor binding | GO:0031749 | 8.35 |
| WW domain binding | GO:0050699 | 6.34 |
| microtubule binding | GO:0008017 | 4.42 |
| GTPase activity | GO:0003924 | 4.31 |
| nucleoside-triphosphatase activity | GO:0017111 | 3.09 |
| protein kinase binding | GO:0019901 | 3.44 |
| kinase binding | GO:0019900 | 3.32 |
| protein domain specific binding | GO:0019904 | 3.32 |
| phosphatidylinositol 3-kinase regulatory subunit binding | GO:0036312 | 7.44 |
| nitric-oxide synthase binding | GO:0050998 | 6.91 |
| hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | GO:0016818 | 3.03 |
| catalytic activity | GO:0003824 | 1.05 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| hydrolase activity, acting on acid anhydrides | GO:0016817 | 3.03 |
| guanyl nucleotide binding | GO:0019001 | 3.73 |
| protein binding | GO:0005515 | 0.46 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| dopamine receptor binding | GO:0050780 | 6.85 |
| receptor binding | GO:0005102 | 2.43 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |