| Disease ID | Disease name | Source of annotation with KCNJ5 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 613677 | HYPERALDOSTERONISM, FAMILIAL, TYPE III | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | KCNJ5 |
| PS192500 | LONG QT SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 16 | ALG10, KCNJ5, KCNH2, CALM1, CALM2, KCNE1, ANK2, AKAP9, SCN5A, SCN4B, SNTA1, CACNA1C, KCNE2, KCNJ2, KCNQ1, CAV3 |
| 115000 | CARDIAC ARRHYTHMIA | ClinVar | link to OMIM | 25 | KCNE3, CACNB2, AKAP9, NPPA, KCNE1, SCN4B, CASQ2, KCNJ5, TANGO2, JUP, ANK2, KCNJ2, DSG2, NOS1AP, KCNJ8, LIG3, RYR2, CACNA1C, KCNE2, KCNH2, SCN5A, HCN4, SNTA1, SCN1B, KCNQ1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Serotonergic synapse | hsa04726 | 5.84 |
| Morphine addiction | hsa05032 | 6.15 |
| Retrograde endocannabinoid signaling | hsa04723 | 6.03 |
| Estrogen signaling pathway | hsa04915 | 6.11 |
| Dopaminergic synapse | hsa04728 | 5.69 |
| Circadian entrainment | hsa04713 | 6.11 |
| Oxytocin signaling pathway | hsa04921 | 5.4 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Inwardly rectifying K+ channels | R-HSA-1296065 | 8.03 |
| Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits | R-HSA-997272 | 8.34 |
| Activation of G protein gated Potassium channels | R-HSA-1296041 | 8.34 |
| Potassium Channels | R-HSA-1296071 | 6.35 |
| GABA receptor activation | R-HSA-977443 | 7.2 |
| Activation of GABAB receptors | R-HSA-991365 | 7.7 |
| G protein gated Potassium channels | R-HSA-1296059 | 8.34 |
| GABA B receptor activation | R-HSA-977444 | 7.7 |
| Neuronal System | R-HSA-112316 | 4.82 |
| Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell | R-HSA-112314 | 5.85 |
| Transmission across Chemical Synapses | R-HSA-112315 | 5.28 |
| GO term | GO ID | GO IC |
|---|---|---|
| potassium channel activity | GO:0005267 | 4.94 |
| cation channel activity | GO:0005261 | 4.04 |
| G-protein activated inward rectifier potassium channel activity | GO:0015467 | 7.44 |
| molecular transducer activity | GO:0060089 | 2.32 |
| binding | GO:0005488 | 0.18 |
| substrate-specific channel activity | GO:0022838 | 3.67 |
| ligand-gated ion channel activity | GO:0015276 | 4.8 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| voltage-gated cation channel activity | GO:0022843 | 4.83 |
| passive transmembrane transporter activity | GO:0022803 | 3.6 |
| metal ion transmembrane transporter activity | GO:0046873 | 3.71 |
| voltage-gated potassium channel activity | GO:0005249 | 5.24 |
| transporter activity | GO:0005215 | 2.57 |
| ion channel activity | GO:0005216 | 3.71 |
| cation transmembrane transporter activity | GO:0008324 | 3.32 |
| substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
| inorganic cation transmembrane transporter activity | GO:0022890 | 3.49 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| ion transmembrane transporter activity | GO:0015075 | 3.04 |
| voltage-gated channel activity | GO:0022832 | 4.49 |
| monovalent inorganic cation transmembrane transporter activity | GO:0015077 | 3.87 |
| channel activity | GO:0015267 | 3.6 |
| gated channel activity | GO:0022836 | 3.96 |
| protein binding | GO:0005515 | 0.46 |
| ligand-gated channel activity | GO:0022834 | 4.8 |
| voltage-gated ion channel activity | GO:0005244 | 4.49 |
| potassium ion transmembrane transporter activity | GO:0015079 | 4.77 |
| inward rectifier potassium channel activity | GO:0005242 | 6.65 |
| transmembrane receptor activity | GO:0099600 | 2.53 |
| receptor activity | GO:0004872 | 2.32 |