Disease Clusters | GeDiPNet

← Back to all clusters

Cluster 284

6 diseases · 12 shared-gene connections

6 Diseases

32 Unique genes

0.265 Avg. similarity score

Adult myoclonic epilepsy Most-connected disease (5 links)

Significant edges only (q < 0.05) Spacing Colour by

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.

Adult myoclonic epilepsy Familial adult myoclonic epilepsy Benign adult familial myoclonic epilepsy Benign myoclonic epilepsy Early onset epilepsy with developmental delay Myoclonic epilepsy

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Adult myoclonic epilepsy	5	5	8
Familial adult myoclonic epilepsy	5	5	8
Benign adult familial myoclonic epilepsy	4	4	3
Benign myoclonic epilepsy	4	4	6
Early onset epilepsy with developmental delay	3	3	3
Myoclonic epilepsy	3	3	24

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

Gene ⇵	Member diseases ⇵	Linked diseases
SAMD12	5 / 6	Adult myoclonic epilepsy, Benign adult familial myoclonic epilepsy, Benign myoclonic epilepsy, Familial adult myoclonic epilepsy and 1 more
ADRA2B	4 / 6	Adult myoclonic epilepsy, Benign adult familial myoclonic epilepsy, Benign myoclonic epilepsy, Familial adult myoclonic epilepsy
CNTN2	4 / 6	Adult myoclonic epilepsy, Benign myoclonic epilepsy, Early onset epilepsy with developmental delay, Familial adult myoclonic epilepsy
MARCHF6	3 / 6	Adult myoclonic epilepsy, Benign myoclonic epilepsy, Familial adult myoclonic epilepsy
RAPGEF2	3 / 6	Adult myoclonic epilepsy, Familial adult myoclonic epilepsy, Myoclonic epilepsy
TNRC6A	3 / 6	Adult myoclonic epilepsy, Familial adult myoclonic epilepsy, Myoclonic epilepsy
YEATS2	3 / 6	Adult myoclonic epilepsy, Benign myoclonic epilepsy, Familial adult myoclonic epilepsy
CTNND2	2 / 6	Adult myoclonic epilepsy, Benign myoclonic epilepsy
STARD7	2 / 6	Benign adult familial myoclonic epilepsy, Familial adult myoclonic 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 ADRA2B, POMC, CHRNA1, GABRA1, GABRA2, GABRD, CHRNA2	KEGG	7 / 370	7.1×	4.30e-5	1.13e-3 ✓ sig.
Nicotine addiction GABRA1, GABRA2, GABRD	KEGG	3 / 41	27.5×	1.71e-4	3.46e-3 ✓ sig.
Highly calcium permeable nicotinic acetylcholine receptors CHRNA1, CHRNA2	Reactome	2 / 9	83.4×	2.45e-4	4.58e-3 ✓ sig.
Androgen biosynthesis POMC, HSD17B3	Reactome	2 / 11	68.2×	3.73e-4	6.34e-3 ✓ sig.
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors CHRNA1, CHRNA2	Reactome	2 / 12	62.6×	4.46e-4	7.29e-3 ✓ sig.
GABA receptor activation GABRA1, GABRA2	Reactome	2 / 16	46.9×	8.06e-4	1.16e-2 ✓ sig.
GABAergic synapse GABRA1, GABRA2, GABRD	KEGG	3 / 89	12.7×	1.67e-3	2.00e-2 ✓ sig.
Morphine addiction GABRA1, GABRA2, GABRD	KEGG	3 / 91	12.4×	1.78e-3	2.10e-2 ✓ sig.
Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) POMC	Reactome	1 / 2	188×	5.32e-3	4.56e-2 ✓ sig.
Peptide hormone biosynthesis POMC	Reactome	1 / 2	188×	5.32e-3	4.56e-2 ✓ sig.
Phase 0 - rapid depolarisation SCN1A, CACNB4	Reactome	2 / 44	17.1×	6.07e-3	4.97e-2 ✓ sig.
Retrograde endocannabinoid signaling GABRA1, GABRA2, GABRD	KEGG	3 / 149	7.6×	7.13e-3	5.54e-2
Adrenaline signalling through Alpha-2 adrenergic receptor ADRA2B	Reactome	1 / 3	125×	7.97e-3	5.96e-2
Opioid Signalling POMC	Reactome	1 / 3	125×	7.97e-3	5.96e-2
Post-transcriptional silencing by small RNAs TNRC6A	Reactome	1 / 7	53.6×	1.85e-2	9.85e-2

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

GO term ⇵	GO ID ⇵	Overlap genes ⇵	Fold enrichment ⇵	P-value ⇵	FDR q-value ⇵
monoatomic ion transmembrane transport SCN1A, CACNB4, CHRNA1, CLCN2, GABRA1, GABRA2, GABRD, KCNQ3, CHRNA2	GO:0034220	9 / 404	13.0×	1.71e-8	2.72e-6 ✓ sig.
regulation of postsynaptic membrane potential CHRNA1, GABRA1, GABRA2, GABRD, CHRNA2	GO:0060078	5 / 59	49.5×	4.98e-8	6.76e-6 ✓ sig.
monoatomic ion transport SCN1A, ATP6V0C, CACNB4, CHRNA1, CLCN2, GABRA1, GABRA2, GABRD, KCNQ3, CHRNA2	GO:0006811	10 / 667	8.8×	9.94e-8	1.20e-5 ✓ sig.
gamma-aminobutyric acid signaling pathway CACNB4, GABRA1, GABRA2, GABRD	GO:0007214	4 / 30	77.9×	1.88e-7	2.06e-5 ✓ sig.
chloride transport CLCN2, GABRA1, GABRA2, GABRD	GO:0006821	4 / 81	28.8×	1.07e-5	5.51e-4 ✓ sig.
neuromuscular synaptic transmission STXBP1, CHRNA1, CHRNA2	GO:0007274	3 / 31	56.5×	1.98e-5	8.92e-4 ✓ sig.
adult walking behavior CNTN2, SCN1A, CACNB4	GO:0007628	3 / 34	51.5×	2.63e-5	1.11e-3 ✓ sig.
neuronal action potential SCN1A, CHRNA1, KCNQ3	GO:0019228	3 / 34	51.5×	2.63e-5	1.11e-3 ✓ sig.
synaptic transmission, GABAergic GABRA1, GABRA2, GABRD	GO:0051932	3 / 35	50.1×	2.88e-5	1.18e-3 ✓ sig.
chloride transmembrane transport CLCN2, GABRA1, GABRA2, GABRD	GO:1902476	4 / 114	20.5×	4.14e-5	1.56e-3 ✓ sig.
establishment of localization in cell CNTN2, SCN1A, STXBP1, KCNQ3	GO:0051649	4 / 147	15.9×	1.11e-4	3.28e-3 ✓ sig.
neuronal action potential propagation SCN1A, CACNB4	GO:0019227	2 / 11	106×	1.55e-4	4.19e-3 ✓ sig.
regulation of synaptic plasticity RAPGEF2, KCNQ3, CHRNA2	GO:0048167	3 / 69	25.4×	2.21e-4	5.42e-3 ✓ sig.
synapse organization CNTN2, CTNND2, CAPRIN1	GO:0050808	3 / 72	24.3×	2.51e-4	5.94e-3 ✓ sig.
regulation of membrane potential SCN1A, CACNB4, CHRNA1	GO:0042391	3 / 85	20.6×	4.10e-4	8.35e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Adult myoclonic epilepsy	Familial adult myoclonic epilepsy	0.700	7	1.57e-24	3.94e-23 ✓ sig.
Adult myoclonic epilepsy	Benign myoclonic epilepsy	0.667	6	1.51e-21	3.25e-20 ✓ sig.
Benign myoclonic epilepsy	Familial adult myoclonic epilepsy	0.500	5	4.66e-17	8.06e-16 ✓ sig.
Benign adult familial myoclonic epilepsy	Familial adult myoclonic epilepsy	0.333	3	9.21e-11	9.69e-10 ✓ sig.
Adult myoclonic epilepsy	Myoclonic epilepsy	0.100	3	1.85e-7	1.30e-6 ✓ sig.
Familial adult myoclonic epilepsy	Myoclonic epilepsy	0.100	3	1.85e-7	1.30e-6 ✓ sig.
Benign adult familial myoclonic epilepsy	Benign myoclonic epilepsy	0.250	2	3.80e-7	2.53e-6 ✓ sig.
Adult myoclonic epilepsy	Benign adult familial myoclonic epilepsy	0.200	2	7.08e-7	4.51e-6 ✓ sig.
Benign myoclonic epilepsy	Early onset epilepsy with developmental delay	0.111	1	1.17e-3	1.88e-3 ✓ sig.
Early onset epilepsy with developmental delay	Familial adult myoclonic epilepsy	0.091	1	1.56e-3	2.36e-3 ✓ sig.
Adult myoclonic epilepsy	Early onset epilepsy with developmental delay	0.091	1	1.56e-3	2.36e-3 ✓ sig.
Benign adult familial myoclonic epilepsy	Myoclonic epilepsy	0.037	1	4.67e-3	5.78e-3 ✓ sig.

Disease Clusters?