| Disease ID | Disease name | Source of annotation with CACNG2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS156200 | MENTAL RETARDATION, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 44 | EHMT1, KANSL1, AHDC1, SOX11, CDH15, KIRREL3, EEF1A2, KAT6A, ZMYND11, ARID1A, KMT2C, PPP2R5D, DYNC1H1, GRIN1, CTCF, SETD5, AUTS2, PACS1, DPP6, MBD5, DEAF1, KIF1A, SYNGAP1, PURA, POGZ, EPB41L1, PPP2R1A, NR1I3, CTNNB1, ARID1B, MYT1L, CACNG2, COL4A3BP, SMARCB1, MEF2C, SMARCE1, SMARCA4, ZBTB18, ADNP, GATAD2B, SETBP1, GRIN2B, CHAMP1, DYRK1A |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Dilated cardiomyopathy | hsa05414 | 6.08 |
| MAPK signaling pathway | hsa04010 | 4.63 |
| Hypertrophic cardiomyopathy (HCM) | hsa05410 | 6.21 |
| Arrhythmogenic right ventricular cardiomyopathy (ARVC) | hsa05412 | 6.32 |
| Cardiac muscle contraction | hsa04260 | 6.34 |
| Adrenergic signaling in cardiomyocytes | hsa04261 | 5.44 |
| Oxytocin signaling pathway | hsa04921 | 5.4 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| LGI-ADAM interactions | R-HSA-5682910 | 9.18 |
| Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity | R-HSA-399721 | 8.08 |
| Trafficking of AMPA receptors | R-HSA-399719 | 8.08 |
| Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels | R-HSA-112308 | 9.28 |
| 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 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| GO term | GO ID | GO IC |
|---|---|---|
| substrate-specific channel activity | GO:0022838 | 3.67 |
| cation channel activity | GO:0005261 | 4.04 |
| calcium channel activity | GO:0005262 | 5.03 |
| binding | GO:0005488 | 0.18 |
| molecular function regulator | GO:0098772 | 2.51 |
| calcium ion transmembrane transporter activity | GO:0015085 | 4.89 |
| divalent inorganic cation transmembrane transporter activity | GO:0072509 | 4.62 |
| voltage-gated cation channel activity | GO:0022843 | 4.83 |
| channel regulator activity | GO:0016247 | 4.88 |
| passive transmembrane transporter activity | GO:0022803 | 3.6 |
| metal ion transmembrane transporter activity | GO:0046873 | 3.71 |
| transporter activity | GO:0005215 | 2.57 |
| ion channel activity | GO:0005216 | 3.71 |
| cation transmembrane transporter activity | GO:0008324 | 3.32 |
| ionotropic glutamate receptor binding | GO:0035255 | 6.56 |
| glutamate receptor binding | GO:0035254 | 6.13 |
| receptor binding | GO:0005102 | 2.43 |
| 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 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| channel activity | GO:0015267 | 3.6 |
| gated channel activity | GO:0022836 | 3.96 |
| protein binding | GO:0005515 | 0.46 |
| voltage-gated calcium channel activity | GO:0005245 | 6.0 |
| voltage-gated ion channel activity | GO:0005244 | 4.49 |