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 |
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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 |