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Cluster 631

5 diseases · 7 shared-gene connections

5 Diseases

9 Unique genes

0.271 Avg. similarity score

Episodic ataxia Most-connected disease (4 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.

Episodic ataxia Infancy-onset recurrent metabolic crises with encephalocardiomyopathy Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Spinocerebellar ataxia 27b, late-onset

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Episodic ataxia	4	4	9
Infancy-onset recurrent metabolic crises with encephalocardiomyopathy	3	3	1
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	3	3	1
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	3	3	1
Spinocerebellar ataxia 27b, late-onset	1	1	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
TANGO2	4 / 5	Episodic ataxia, Infancy-onset recurrent metabolic crises with encephalocardiomyopathy, Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
FGF14	2 / 5	Episodic ataxia, Spinocerebellar ataxia 27b, late-onset

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 ⇵
Phase 0 - rapid depolarisation CACNB4, SCN2A, FGF14	Reactome	3 / 44	91.0×	3.80e-6	1.30e-4 ✓ sig.
Presynaptic depolarization and calcium channel opening CACNA1A, CACNB4	Reactome	2 / 12	222×	3.28e-5	7.81e-4 ✓ sig.
Defective SLC1A3 causes episodic ataxia 6 (EA6) SLC1A3	Reactome	1 / 1	1,334×	7.49e-4	9.09e-3 ✓ sig.
Synaptic vesicle cycle CACNA1A, SLC1A3	KEGG	2 / 79	33.8×	1.49e-3	1.53e-2 ✓ sig.
Taste transduction CACNA1A, SCN2A	KEGG	2 / 86	31.0×	1.77e-3	1.74e-2 ✓ sig.
Astrocytic Glutamate-Glutamine Uptake And Metabolism SLC1A3	Reactome	1 / 4	334×	2.99e-3	2.54e-2 ✓ sig.
Glutamatergic synapse CACNA1A, SLC1A3	KEGG	2 / 116	23.0×	3.19e-3	2.66e-2 ✓ sig.
Spinocerebellar ataxia CACNA1A, FGF14	KEGG	2 / 144	18.5×	4.86e-3	3.59e-2 ✓ sig.
Transport of inorganic cations/anions and amino acids/oligopeptides SLC1A3	Reactome	1 / 8	167×	5.98e-3	4.10e-2 ✓ sig.
Regulation of insulin secretion CACNA1A	Reactome	1 / 16	83.4×	1.19e-2	6.32e-2
Glutamate Neurotransmitter Release Cycle SLC1A3	Reactome	1 / 24	55.6×	1.78e-2	8.03e-2
Phase 2 - plateau phase CACNB4	Reactome	1 / 25	53.4×	1.86e-2	8.21e-2
MAPK signaling pathway CACNA1A, CACNB4	KEGG	2 / 299	8.9×	1.98e-2	8.52e-2
Nicotine addiction CACNA1A	KEGG	1 / 41	32.5×	3.03e-2	1.09e-1
Voltage gated Potassium channels KCNA1	Reactome	1 / 43	31.0×	3.18e-2	1.12e-1

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 transport CACNA1A, CACNB4, KCNA1, SCN2A, SLC1A3	GO:0006811	5 / 667	15.6×	6.38e-6	3.85e-4 ✓ sig.
monoatomic ion transmembrane transport CACNA1A, CACNB4, KCNA1, SCN2A	GO:0034220	4 / 404	20.6×	2.49e-5	1.09e-3 ✓ sig.
neuronal action potential KCNA1, SCN2A	GO:0019228	2 / 34	122×	1.15e-4	3.42e-3 ✓ sig.
chemical synaptic transmission CACNA1A, CACNB4, SLC1A3	GO:0007268	3 / 236	26.4×	1.58e-4	4.30e-3 ✓ sig.
action potential KCNA1, SCN2A	GO:0001508	2 / 53	78.4×	2.81e-4	6.46e-3 ✓ sig.
regulation of membrane potential CACNB4, KCNA1	GO:0042391	2 / 85	48.9×	7.21e-4	1.21e-2 ✓ sig.
intrinsic apoptotic signaling pathway in response to osmotic stress SCN2A	GO:0008627	1 / 2	1,038×	9.63e-4	1.42e-2 ✓ sig.
negative regulation of HRI-mediated signaling UBR4	GO:0141191	1 / 2	1,038×	9.63e-4	1.42e-2 ✓ sig.
cytoplasm protein quality control UBR4	GO:0140455	1 / 3	692×	1.44e-3	1.79e-2 ✓ sig.
cytoplasm protein quality control by the ubiquitin-proteasome system UBR4	GO:0071629	1 / 3	692×	1.44e-3	1.79e-2 ✓ sig.
gamma-aminobutyric acid secretion CACNB4	GO:0014051	1 / 4	519×	1.93e-3	2.07e-2 ✓ sig.
cranial nerve development SLC1A3	GO:0021545	1 / 4	519×	1.93e-3	2.07e-2 ✓ sig.
cAMP metabolic process CACNB4	GO:0046058	1 / 4	519×	1.93e-3	2.07e-2 ✓ sig.
detection of mechanical stimulus involved in sensory perception of touch KCNA1	GO:0050976	1 / 4	519×	1.93e-3	2.07e-2 ✓ sig.
transmembrane transport CACNA1A, KCNA1, SCN2A	GO:0055085	3 / 557	11.2×	1.93e-3	2.08e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Infancy-onset recurrent metabolic crises with encephalocardiomyopathy	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Infancy-onset recurrent metabolic crises with encephalocardiomyopathy	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Episodic ataxia	Spinocerebellar ataxia 27b, late-onset	0.100	1	5.81e-4	1.00e-3 ✓ sig.
Episodic ataxia	Infancy-onset recurrent metabolic crises with encephalocardiomyopathy	0.100	1	5.81e-4	1.00e-3 ✓ sig.
Episodic ataxia	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	0.100	1	5.81e-4	1.00e-3 ✓ sig.
Episodic ataxia	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	0.100	1	5.81e-4	1.00e-3 ✓ sig.

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