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Cluster 555

5 diseases · 7 shared-gene connections

5 Diseases

4 Unique genes

0.302 Avg. similarity score

Apnea 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.

Apnea Butyrylcholinesterase deficiency Paresis Trismus Periodic fever, menstrual cycle-dependent

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Apnea	4	4	3
Butyrylcholinesterase deficiency	3	3	1
Paresis	3	3	2
Trismus	3	3	1
Periodic fever, menstrual cycle-dependent	1	1	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
BCHE	4 / 5	Apnea, Butyrylcholinesterase deficiency, Paresis, Trismus
HTR1A	2 / 5	Apnea, Periodic fever, menstrual cycle-dependent

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 ⇵
Defective SLC6A5 causes hyperekplexia 3 (HKPX3) SLC6A5	Reactome	1 / 1	3,003×	3.33e-4	4.88e-3 ✓ sig.
Neurotransmitter clearance BCHE	Reactome	1 / 4	751×	1.33e-3	1.41e-2 ✓ sig.
Serotonin receptors HTR1A	Reactome	1 / 12	250×	3.99e-3	3.12e-2 ✓ sig.
Dissolution of Fibrin Clot PLAT	Reactome	1 / 13	231×	4.32e-3	3.30e-2 ✓ sig.
Na+/Cl- dependent neurotransmitter transporters SLC6A5	Reactome	1 / 19	158×	6.31e-3	4.25e-2 ✓ sig.
Synthesis, secretion, and deacylation of Ghrelin BCHE	Reactome	1 / 19	158×	6.31e-3	4.25e-2 ✓ sig.
Synthesis of PC BCHE	Reactome	1 / 28	107×	9.29e-3	5.43e-2
Signaling by PDGF PLAT	Reactome	1 / 33	91.0×	1.09e-2	6.01e-2
Synaptic vesicle cycle SLC6A5	KEGG	1 / 79	38.0×	2.61e-2	9.99e-2
Taste transduction HTR1A	KEGG	1 / 86	34.9×	2.83e-2	1.05e-1
Complement and coagulation cascades PLAT	KEGG	1 / 88	34.1×	2.90e-2	1.06e-1
Prostate cancer PLAT	KEGG	1 / 98	30.6×	3.22e-2	1.13e-1
Serotonergic synapse HTR1A	KEGG	1 / 115	26.1×	3.78e-2	1.23e-1
Apelin signaling pathway PLAT	KEGG	1 / 140	21.4×	4.58e-2	1.38e-1
Fluid shear stress and atherosclerosis PLAT	KEGG	1 / 141	21.3×	4.61e-2	1.38e-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 ⇵
cocaine metabolic process BCHE	GO:0050783	1 / 1	4,672×	2.14e-4	5.31e-3 ✓ sig.
regulation of serotonin secretion HTR1A	GO:0014062	1 / 2	2,336×	4.28e-4	8.53e-3 ✓ sig.
acetylcholine catabolic process BCHE	GO:0006581	1 / 2	2,336×	4.28e-4	8.53e-3 ✓ sig.
trans-synaptic signaling by BDNF, modulating synaptic transmission PLAT	GO:0099183	1 / 3	1,557×	6.42e-4	1.11e-2 ✓ sig.
choline metabolic process BCHE	GO:0019695	1 / 3	1,557×	6.42e-4	1.11e-2 ✓ sig.
synaptic transmission, glycinergic SLC6A5	GO:0060012	1 / 3	1,557×	6.42e-4	1.11e-2 ✓ sig.
regulation of hormone secretion HTR1A	GO:0046883	1 / 4	1,168×	8.56e-4	1.33e-2 ✓ sig.
chemical synaptic transmission HTR1A, SLC6A5	GO:0007268	2 / 236	39.6×	9.37e-4	1.42e-2 ✓ sig.
glycine import across plasma membrane SLC6A5	GO:1903804	1 / 5	934×	1.07e-3	1.51e-2 ✓ sig.
prevention of polyspermy PLAT	GO:0060468	1 / 6	779×	1.28e-3	1.67e-2 ✓ sig.
negative regulation of plasminogen activation PLAT	GO:0010757	1 / 7	667×	1.50e-3	1.82e-2 ✓ sig.
neuroblast differentiation BCHE	GO:0014016	1 / 7	667×	1.50e-3	1.82e-2 ✓ sig.
response to folic acid BCHE	GO:0051593	1 / 8	584×	1.71e-3	1.96e-2 ✓ sig.
regulation of dopamine metabolic process HTR1A	GO:0042053	1 / 9	519×	1.93e-3	2.07e-2 ✓ sig.
smooth muscle cell migration PLAT	GO:0014909	1 / 9	519×	1.93e-3	2.07e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Butyrylcholinesterase deficiency	Trismus	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Butyrylcholinesterase deficiency	Paresis	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Paresis	Trismus	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Apnea	Periodic fever, menstrual cycle-dependent	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Apnea	Butyrylcholinesterase deficiency	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Apnea	Trismus	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Apnea	Paresis	0.200	1	3.87e-4	7.33e-4 ✓ sig.

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