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Cluster 268

7 diseases · 20 shared-gene connections

7 Diseases

2 Unique genes

0.458 Avg. similarity score

Benign samaritan congenital myopathy Most-connected disease (6 links)

Significant edges only (q < 0.05) Spacing Colour by

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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.

Benign samaritan congenital myopathy Central core disease Central core myopathy Congenital multicore myopathy with external ophthalmoplegia malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Benign samaritan congenital myopathy	6	6	1
Central core disease	6	6	1
Central core myopathy	6	6	1
Congenital multicore myopathy with external ophthalmoplegia	6	6	1
malignant hyperthermia, susceptibility to, 1	6	6	1
Malignant hyperthermia	5	5	2
RYR1-related myopathy	5	5	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
RYR1	7 / 7	Benign samaritan congenital myopathy, Central core disease, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia and 3 more

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 ⇵
Oxytocin signaling pathway RYR1, CACNA1S	KEGG	2 / 154	78.0×	1.63e-4	3.33e-3 ✓ sig.
Calcium signaling pathway RYR1, CACNA1S	KEGG	2 / 254	47.3×	4.46e-4	7.29e-3 ✓ sig.
Prion disease RYR1, CACNA1S	KEGG	2 / 275	43.7×	5.22e-4	8.24e-3 ✓ sig.
Pathways of neurodegeneration - multiple diseases RYR1, CACNA1S	KEGG	2 / 480	25.0×	1.59e-3	1.93e-2 ✓ sig.
Phase 2 - plateau phase CACNA1S	Reactome	1 / 25	240×	4.16e-3	3.87e-2 ✓ sig.
Phase 0 - rapid depolarisation CACNA1S	Reactome	1 / 44	136×	7.31e-3	5.62e-2
Ion homeostasis RYR1	Reactome	1 / 54	111×	8.97e-3	6.42e-2
Long-term depression RYR1	KEGG	1 / 60	100×	9.97e-3	6.82e-2
Cortisol synthesis and secretion CACNA1S	KEGG	1 / 65	92.4×	1.08e-2	7.19e-2
GnRH secretion CACNA1S	KEGG	1 / 65	92.4×	1.08e-2	7.19e-2
Renin secretion CACNA1S	KEGG	1 / 69	87.0×	1.15e-2	7.45e-2
Stimuli-sensing channels RYR1	Reactome	1 / 79	76.0×	1.31e-2	8.02e-2
Insulin secretion CACNA1S	KEGG	1 / 86	69.8×	1.43e-2	8.46e-2
Arrhythmogenic right ventricular cardiomyopathy CACNA1S	KEGG	1 / 86	69.8×	1.43e-2	8.46e-2
Cardiac muscle contraction CACNA1S	KEGG	1 / 87	69.0×	1.44e-2	8.52e-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 ⇵
cellular response to caffeine RYR1, CACNA1S	GO:0071313	2 / 11	1,699×	3.15e-7	3.17e-5 ✓ sig.
striated muscle contraction RYR1, CACNA1S	GO:0006941	2 / 24	779×	1.58e-6	1.19e-4 ✓ sig.
skeletal muscle fiber development RYR1, CACNA1S	GO:0048741	2 / 31	603×	2.66e-6	1.81e-4 ✓ sig.
release of sequestered calcium ion into cytosol RYR1, CACNA1S	GO:0051209	2 / 48	389×	6.46e-6	3.68e-4 ✓ sig.
muscle contraction RYR1, CACNA1S	GO:0006936	2 / 85	220×	2.04e-5	9.14e-4 ✓ sig.
calcium ion transmembrane transport RYR1, CACNA1S	GO:0070588	2 / 149	125×	6.32e-5	2.14e-3 ✓ sig.
calcium ion transport RYR1, CACNA1S	GO:0006816	2 / 157	119×	7.01e-5	2.32e-3 ✓ sig.
skeletal muscle adaptation CACNA1S	GO:0043501	1 / 1	9,344×	1.07e-4	3.18e-3 ✓ sig.
monoatomic ion transmembrane transport RYR1, CACNA1S	GO:0034220	2 / 404	46.3×	4.66e-4	9.13e-3 ✓ sig.
extraocular skeletal muscle development CACNA1S	GO:0002074	1 / 6	1,557×	6.42e-4	1.13e-2 ✓ sig.
positive regulation of muscle contraction CACNA1S	GO:0045933	1 / 7	1,335×	7.49e-4	1.25e-2 ✓ sig.
response to caffeine RYR1	GO:0031000	1 / 7	1,335×	7.49e-4	1.25e-2 ✓ sig.
transmembrane transport RYR1, CACNA1S	GO:0055085	2 / 557	33.5×	8.87e-4	1.40e-2 ✓ sig.
release of sequestered calcium ion into cytosol by sarcoplasmic reticulum RYR1	GO:0014808	1 / 9	1,038×	9.63e-4	1.47e-2 ✓ sig.
monoatomic ion transport RYR1, CACNA1S	GO:0006811	2 / 667	28.0×	1.27e-3	1.75e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Central core myopathy	malignant hyperthermia, susceptibility to, 1	0.500	1	6.49e-5	2.34e-4 ✓ sig.
malignant hyperthermia, susceptibility to, 1	RYR1-related myopathy	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Congenital multicore myopathy with external ophthalmoplegia	RYR1-related myopathy	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Congenital multicore myopathy with external ophthalmoplegia	malignant hyperthermia, susceptibility to, 1	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Central core myopathy	RYR1-related myopathy	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Benign samaritan congenital myopathy	Central core disease	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Central core myopathy	Congenital multicore myopathy with external ophthalmoplegia	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Central core disease	RYR1-related myopathy	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Central core disease	malignant hyperthermia, susceptibility to, 1	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Central core disease	Congenital multicore myopathy with external ophthalmoplegia	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Central core disease	Central core myopathy	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Benign samaritan congenital myopathy	RYR1-related myopathy	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Benign samaritan congenital myopathy	malignant hyperthermia, susceptibility to, 1	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Benign samaritan congenital myopathy	Congenital multicore myopathy with external ophthalmoplegia	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Benign samaritan congenital myopathy	Central core myopathy	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Central core disease	Malignant hyperthermia	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Benign samaritan congenital myopathy	Malignant hyperthermia	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Central core myopathy	Malignant hyperthermia	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Congenital multicore myopathy with external ophthalmoplegia	Malignant hyperthermia	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Malignant hyperthermia	malignant hyperthermia, susceptibility to, 1	0.333	1	1.30e-4	3.90e-4 ✓ sig.

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