Disease ID | Disease name | Source of annotation with DNM1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS308350 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 37 | KCNT1, EEF1A2, SZT2, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, GRIN2B, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, PNKP, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, CDKL5, GABRA1, SLC12A5, DOCK7, ARX, SCN8A, NECAP1, PIGA |
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 |
Endocytosis | hsa04144 | 4.92 |
Bacterial invasion of epithelial cells | hsa05100 | 6.34 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Immune System | R-HSA-168256 | 2.37 |
Recycling pathway of L1 | R-HSA-437239 | 7.62 |
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 |
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 |
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 |
EPH-Ephrin signaling | R-HSA-2682334 | 6.43 |
Axon guidance | R-HSA-422475 | 3.93 |
NGF signalling via TRKA from the plasma membrane | R-HSA-187037 | 4.51 |
Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
EPH-ephrin mediated repulsion of cells | R-HSA-3928665 | 7.34 |
Formation of annular gap junctions | R-HSA-196025 | 9.52 |
MHC class II antigen presentation | R-HSA-2132295 | 6.01 |
Retrograde neurotrophin signalling | R-HSA-177504 | 9.28 |
Signal Transduction | R-HSA-162582 | 1.78 |
GO term | GO ID | GO IC |
---|---|---|
protein C-terminus binding | GO:0008022 | 4.5 |
purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
enzyme binding | GO:0019899 | 2.27 |
dopamine receptor binding | GO:0050780 | 6.85 |
binding | GO:0005488 | 0.18 |
nucleic acid binding | GO:0003676 | 1.44 |
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 |
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 |
identical protein binding | GO:0042802 | 2.63 |
GTP binding | GO:0005525 | 3.78 |
hydrolase activity | GO:0016787 | 1.9 |
D2 dopamine receptor binding | GO:0031749 | 8.35 |
poly(A) RNA binding | GO:0044822 | 2.69 |
GTPase activity | GO:0003924 | 4.31 |
nucleoside-triphosphatase activity | GO:0017111 | 3.09 |
protein kinase binding | GO:0019901 | 3.44 |
catalytic activity | GO:0003824 | 1.05 |
protein dimerization activity | GO:0046983 | 2.72 |
nitric-oxide synthase binding | GO:0050998 | 6.91 |
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | GO:0016818 | 3.03 |
kinase binding | GO:0019900 | 3.32 |
carbohydrate derivative binding | GO:0097367 | 2.03 |
organic cyclic compound binding | GO:0097159 | 1.05 |
hydrolase activity, acting on acid anhydrides | GO:0016817 | 3.03 |
guanyl nucleotide binding | GO:0019001 | 3.73 |
RNA binding | GO:0003723 | 2.36 |
protein binding | GO:0005515 | 0.46 |
purine ribonucleotide binding | GO:0032555 | 2.2 |
macromolecular complex binding | GO:0044877 | 2.61 |
receptor binding | GO:0005102 | 2.43 |
purine ribonucleoside binding | GO:0032550 | 2.22 |
ribonucleotide binding | GO:0032553 | 2.19 |