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Cluster 223

7 diseases · 8 shared-gene connections
7 Diseases
373 Unique genes
0.085 Avg. similarity score
Epilepsy Most-connected disease (4 links)
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Disease Pinned (dragged)
Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details · click a node to select it and show its pairs below (double-click or Ctrl/⌘-click opens the disease page) · drag a node to pin it in place · scroll/pinch to zoom.

Member diseases (most connected first ‐ the cluster's core)

Top shared genes (genes linked to 2+ member diseases)

Gene ⇵ Member diseases ⇵ Linked diseases
SCN1A 4 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy, Seizures
ADGRL3 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
ALDH2 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
BRAP 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
CAMSAP2 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
CDKL5 3 / 7 Epilepsy, Partial epilepsy, Seizures
CHRNA7 3 / 7 Epilepsy, Generalized epilepsy, Seizures
CNEP1R1 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
CUX2 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
EXT1 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
GABRA2 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
GABRG1 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
GBF1 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
GOLIM4 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
GRM3 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
HTR1A 3 / 7 Epilepsy, Generalized epilepsy, Seizures
MECP2 3 / 7 Epilepsy, Partial epilepsy, Seizures
MMP8 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
NAA25 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
OGA 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
PCDH7 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
PIGQ 3 / 7 developmental and epileptic encephalopathy, 77, Epilepsy, Seizures
POLG 3 / 7 Epilepsy, Generalized epilepsy, Seizures
RBFOX1 3 / 7 Epilepsy, Generalized epilepsy, Seizures
RPH3A 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
SCN2A 3 / 7 Epilepsy, Partial epilepsy, Seizures
SCN8A 3 / 7 Epilepsy, Partial epilepsy, Seizures
STX1B 3 / 7 Epilepsy, Generalized epilepsy, Seizures
TNKS 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
TRIM36 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
VRK2 3 / 7 Epilepsy, Generalized epilepsy, Partial epilepsy
ACHE 2 / 7 Epilepsy, Seizures
ALDH7A1 2 / 7 Epilepsy, Seizures
ATP1A3 2 / 7 Epilepsy, Seizures
AUTS2 2 / 7 Epilepsy, Generalized epilepsy
BCHE 2 / 7 Epilepsy, Seizures
BDNF 2 / 7 Epilepsy, Seizures
C1ORF94 2 / 7 Epilepsy, Generalized epilepsy
CACNA1H 2 / 7 Epilepsy, Partial epilepsy
CACNB4 2 / 7 Epilepsy, Generalized epilepsy
CDK5RAP3 2 / 7 Epilepsy, Generalized epilepsy
CHRM1 2 / 7 Epilepsy, Seizures
CHRM3 2 / 7 Epilepsy, Generalized epilepsy
CPA6 2 / 7 Epilepsy, Seizures
CRH 2 / 7 Epilepsy, Seizures
DEPDC5 2 / 7 Epilepsy, Partial epilepsy
DIAPH1 2 / 7 Epilepsy, Seizures
DYRK1A 2 / 7 Epilepsy, Seizures
FOS 2 / 7 Epilepsy, Seizures
FOXG1 2 / 7 Epilepsy, Seizures
GABRA1 2 / 7 Epilepsy, Seizures
GABRG2 2 / 7 Epilepsy, Seizures
GLS 2 / 7 Epilepsy, Generalized epilepsy
GRIN2A 2 / 7 Epilepsy, Partial epilepsy
HCN1 2 / 7 Epilepsy, Seizures
HPS4 2 / 7 Epilepsy, Generalized epilepsy
IQCM 2 / 7 Epilepsy, Generalized epilepsy
KCNQ2 2 / 7 Epilepsy, Seizures
KLHL29 2 / 7 Epilepsy, Generalized epilepsy
KRTAP8-1 2 / 7 Epilepsy, Generalized epilepsy
MAST4 2 / 7 Epilepsy, Generalized epilepsy
NAB1 2 / 7 Epilepsy, Generalized epilepsy
NPY 2 / 7 Epilepsy, Seizures
NRROS 2 / 7 Seizures, seizures, early-onset, with neurodegeneration and brain calcifications
OPRM1 2 / 7 Epilepsy, Seizures
PADI4 2 / 7 Epilepsy, Generalized epilepsy
PADI6 2 / 7 Epilepsy, Generalized epilepsy
PCDH19 2 / 7 Epilepsy, Seizures
PLA2G4A 2 / 7 Epilepsy, Generalized epilepsy
POMC 2 / 7 Epilepsy, Seizures
PTPRD 2 / 7 Epilepsy, Partial epilepsy
PTPRK 2 / 7 Epilepsy, Generalized epilepsy
SLC12A5 2 / 7 Epilepsy, Seizures
SLC1A1 2 / 7 Epilepsy, Seizures
SLC2A1 2 / 7 Epilepsy, Seizures
SLC33A1 2 / 7 Congenital cataract hearing loss developmental delay syndrome, Partial epilepsy
SLC6A1 2 / 7 Epilepsy, Seizures
SNAP25 2 / 7 Epilepsy, Partial epilepsy
STMND1 2 / 7 Epilepsy, Generalized epilepsy
TSC1 2 / 7 Epilepsy, Seizures
TSC2 2 / 7 Epilepsy, Seizures
ZNF217 2 / 7 Epilepsy, Generalized epilepsy
What do these columns mean?
Connections in cluster
How many other members this disease has a shared-gene link to (the node size in the network above). The most-connected diseases are the cluster's core.
Significant partners
How many of those links are statistically significant (FDR q < 0.05).
Curated genes
Distinct curated genes linked to that disease in GeDiPNet.
Member diseases (Top shared genes)
How many of this cluster's diseases are linked to the gene, out of the cluster's total. Genes shared by many members are the most direct explanation of why they group together.
Overlap genes (x / y)
x = genes shared between this cluster and the pathway/GO term; y = that pathway/GO term's total gene count. A higher x relative to y (and to the cluster's own size) means a tighter biological match.
Cluster gene count
Total distinct genes across every disease in this cluster -- the "n" used in the significance test below.
Fold enrichment
Observed overlap divided by the overlap expected by chance, given the cluster's gene count, the pathway/term's size and the gene universe tested. 5× means five times more shared genes than random. Tells strong hits apart when q-values are all vanishingly small.
P-value / FDR q-value
Is this pathway/GO term's overlap with the cluster more than chance? Upper-tail hypergeometric test, Benjamini-Hochberg corrected across every tested pathway/term (prefer the q-value -- it accounts for testing many at once).
Shared genes (Pairs within this cluster)
Number of curated genes the two diseases in that row have in common.
Similarity score (Pairs within this cluster)
Jaccard-based gene overlap between the two specific diseases in that row -- same metric as the main Shared-Gene Disease Pairs page.

Enriched Pathways (why this cluster is grouped, biologically)

Pathway ⇵ Source ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
Neuroactive ligand-receptor interaction KEGG 57 / 370 5.0× 2.16e-24 3.67e-21 ✓ sig.
Nicotine addiction KEGG 18 / 41 14.1× 5.07e-17 2.41e-14 ✓ sig.
GABAergic synapse KEGG 20 / 89 7.2× 2.35e-12 4.79e-10 ✓ sig.
cAMP signaling pathway KEGG 31 / 226 4.4× 2.86e-12 5.68e-10 ✓ sig.
Retrograde endocannabinoid signaling KEGG 24 / 149 5.2× 2.92e-11 4.72e-9 ✓ sig.
Cholinergic synapse KEGG 21 / 115 5.9× 4.51e-11 7.03e-9 ✓ sig.
Hormone signaling KEGG 28 / 219 4.1× 1.82e-10 2.48e-8 ✓ sig.
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors Reactome 8 / 12 21.5× 3.57e-10 4.53e-8 ✓ sig.
Highly calcium permeable nicotinic acetylcholine receptors Reactome 7 / 9 25.0× 9.00e-10 1.02e-7 ✓ sig.
Glutamatergic synapse KEGG 19 / 116 5.3× 2.62e-9 2.63e-7 ✓ sig.
Calcium signaling pathway KEGG 27 / 254 3.4× 2.28e-8 1.81e-6 ✓ sig.
Taste transduction KEGG 15 / 86 5.6× 5.33e-8 3.78e-6 ✓ sig.
Morphine addiction KEGG 15 / 91 5.3× 1.17e-7 7.49e-6 ✓ sig.
GABA receptor activation Reactome 7 / 16 14.1× 2.37e-7 1.38e-5 ✓ sig.
Phase 0 - rapid depolarisation Reactome 10 / 44 7.3× 7.15e-7 3.64e-5 ✓ sig.

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
chemical synaptic transmission GO:0007268 51 / 236 10.8× 4.97e-38 4.58e-34 ✓ sig.
monoatomic ion transport GO:0006811 72 / 667 5.4× 1.23e-32 7.83e-29 ✓ sig.
monoatomic ion transmembrane transport GO:0034220 52 / 404 6.4× 3.37e-27 1.39e-23 ✓ sig.
regulation of postsynaptic membrane potential GO:0060078 20 / 59 17.0× 8.34e-20 1.31e-16 ✓ sig.
response to nicotine GO:0035094 16 / 40 20.0× 1.87e-17 2.09e-14 ✓ sig.
excitatory postsynaptic potential GO:0060079 19 / 69 13.8× 5.96e-17 5.99e-14 ✓ sig.
response to hypoxia GO:0001666 27 / 176 7.7× 1.60e-16 1.44e-13 ✓ sig.
response to xenobiotic stimulus GO:0009410 31 / 248 6.3× 3.37e-16 2.89e-13 ✓ sig.
potassium ion transport GO:0006813 24 / 152 7.9× 4.10e-15 2.88e-12 ✓ sig.
regulation of membrane potential GO:0042391 19 / 85 11.2× 4.10e-15 2.88e-12 ✓ sig.
nervous system development GO:0007399 45 / 631 3.6× 1.20e-13 6.53e-11 ✓ sig.
presynaptic modulation of chemical synaptic transmission GO:0099171 13 / 37 17.6× 1.50e-13 7.98e-11 ✓ sig.
response to ethanol GO:0045471 19 / 110 8.7× 5.90e-13 2.84e-10 ✓ sig.
synaptic transmission, cholinergic GO:0007271 11 / 25 22.0× 6.01e-13 2.87e-10 ✓ sig.
locomotory behavior GO:0007626 18 / 99 9.1× 9.70e-13 4.48e-10 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Epilepsy Generalized epilepsy 0.173 44 5.37e-66 3.88e-64 ✓ sig.
Epilepsy Partial epilepsy 0.121 30 3.50e-45 1.76e-43 ✓ sig.
Generalized epilepsy Partial epilepsy 0.236 21 6.88e-40 3.04e-38 ✓ sig.
Epilepsy Seizures 0.109 37 8.39e-36 3.31e-34 ✓ sig.
Congenital cataract hearing loss developmental delay syndrome Partial epilepsy 0.022 1 5.71e-3 6.93e-3 ✓ sig.
developmental and epileptic encephalopathy, 77 Seizures 0.007 1 9.16e-3 1.05e-2 ✓ sig.
Seizures seizures, early-onset, with neurodegeneration and brain calcifications 0.007 1 9.16e-3 1.05e-2 ✓ sig.
developmental and epileptic encephalopathy, 77 Epilepsy 0.004 1 1.51e-2 1.68e-2 ✓ sig.