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Cluster 499

6 diseases · 13 shared-gene connections

6 Diseases

8 Unique genes

0.304 Avg. similarity score

East syndrome 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.

East syndrome Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance Sesame syndrome Enlarged vestibular aqueduct Seizures, tonic-clonic, photosensitive Littles disease

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
East syndrome	5	5	1
Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance	5	5	1
Sesame syndrome	5	5	1
Enlarged vestibular aqueduct	4	4	3
Seizures, tonic-clonic, photosensitive	4	4	2
Littles disease	3	3	5

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

Gene ⇵	Member diseases ⇵	Linked diseases
KCNJ10	6 / 6	East syndrome, Enlarged vestibular aqueduct, Littles disease, Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance and 2 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 ⇵
Defective SLC26A4 causes Pendred syndrome (PDS) SLC26A4	Reactome	1 / 1	1,501×	6.66e-4	8.31e-3 ✓ sig.
Selenocysteine synthesis SEPSECS	Reactome	1 / 3	500×	2.00e-3	1.90e-2 ✓ sig.
Potassium transport channels KCNJ10	Reactome	1 / 3	500×	2.00e-3	1.90e-2 ✓ sig.
Multifunctional anion exchangers SLC26A4	Reactome	1 / 9	167×	5.98e-3	4.10e-2 ✓ sig.
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 IFIH1	Reactome	1 / 12	125×	7.97e-3	4.94e-2 ✓ sig.
GABA synthesis, release, reuptake and degradation STXBP1	Reactome	1 / 13	115×	8.63e-3	5.19e-2
TRAF3-dependent IRF activation pathway IFIH1	Reactome	1 / 14	107×	9.29e-3	5.43e-2
Selenocompound metabolism SEPSECS	KEGG	1 / 17	88.3×	1.13e-2	6.12e-2
Acetylcholine Neurotransmitter Release Cycle STXBP1	Reactome	1 / 17	88.3×	1.13e-2	6.12e-2
DDX58/IFIH1-mediated induction of interferon-alpha/beta IFIH1	Reactome	1 / 17	88.3×	1.13e-2	6.12e-2
Serotonin Neurotransmitter Release Cycle STXBP1	Reactome	1 / 18	83.4×	1.19e-2	6.32e-2
Norepinephrine Neurotransmitter Release Cycle STXBP1	Reactome	1 / 18	83.4×	1.19e-2	6.32e-2
Dopamine Neurotransmitter Release Cycle STXBP1	Reactome	1 / 23	65.3×	1.52e-2	7.32e-2
Glutamate Neurotransmitter Release Cycle STXBP1	Reactome	1 / 24	62.6×	1.59e-2	7.50e-2
TRAF6 mediated NF-kB activation IFIH1	Reactome	1 / 24	62.6×	1.59e-2	7.50e-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 ⇵
synaptic vesicle maturation ZDHHC15, STXBP1	GO:0016188	2 / 9	519×	5.76e-6	3.54e-4 ✓ sig.
conversion of seryl-tRNAsec to selenocys-tRNAsec SEPSECS	GO:0001717	1 / 1	2,336×	4.28e-4	8.53e-3 ✓ sig.
positive regulation of vesicle docking STXBP1	GO:0106022	1 / 1	2,336×	4.28e-4	8.53e-3 ✓ sig.
regulation of acrosomal vesicle exocytosis STXBP1	GO:2000367	1 / 1	2,336×	4.28e-4	8.53e-3 ✓ sig.
protein localization to postsynapse ZDHHC15	GO:0062237	1 / 1	2,336×	4.28e-4	8.53e-3 ✓ sig.
regulation of type III interferon production IFIH1	GO:0034344	1 / 2	1,168×	8.56e-4	1.33e-2 ✓ sig.
positive regulation of glutamate secretion, neurotransmission STXBP1	GO:1903296	1 / 2	1,168×	8.56e-4	1.33e-2 ✓ sig.
glutamate reuptake KCNJ10	GO:0051935	1 / 2	1,168×	8.56e-4	1.33e-2 ✓ sig.
protein targeting to Golgi apparatus ZDHHC15	GO:0140450	1 / 3	779×	1.28e-3	1.67e-2 ✓ sig.
mitotic spindle disassembly SPAST	GO:0051228	1 / 3	779×	1.28e-3	1.67e-2 ✓ sig.
cytokinetic process SPAST	GO:0032506	1 / 3	779×	1.28e-3	1.67e-2 ✓ sig.
axon target recognition STXBP1	GO:0007412	1 / 3	779×	1.28e-3	1.67e-2 ✓ sig.
regulation of regulated secretory pathway STXBP1	GO:1903305	1 / 3	779×	1.28e-3	1.67e-2 ✓ sig.
establishment of localization in cell KCNJ10, STXBP1	GO:0051649	2 / 147	31.8×	1.67e-3	1.94e-2 ✓ sig.
detection of virus IFIH1	GO:0009597	1 / 4	584×	1.71e-3	1.96e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
East syndrome	Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance	0.500	1	6.46e-5	1.98e-4 ✓ sig.
East syndrome	Sesame syndrome	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance	Sesame syndrome	0.500	1	6.46e-5	1.98e-4 ✓ sig.
East syndrome	Seizures, tonic-clonic, photosensitive	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance	Seizures, tonic-clonic, photosensitive	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Seizures, tonic-clonic, photosensitive	Sesame syndrome	0.333	1	1.29e-4	3.27e-4 ✓ sig.
East syndrome	Enlarged vestibular aqueduct	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Enlarged vestibular aqueduct	Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Enlarged vestibular aqueduct	Sesame syndrome	0.250	1	1.94e-4	4.41e-4 ✓ sig.
East syndrome	Littles disease	0.167	1	3.23e-4	6.41e-4 ✓ sig.
Littles disease	Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance	0.167	1	3.23e-4	6.41e-4 ✓ sig.
Littles disease	Sesame syndrome	0.167	1	3.23e-4	6.41e-4 ✓ sig.
Enlarged vestibular aqueduct	Seizures, tonic-clonic, photosensitive	0.200	1	3.87e-4	7.33e-4 ✓ sig.

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