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Cluster 634

5 diseases · 7 shared-gene connections

5 Diseases

3 Unique genes

0.357 Avg. similarity score

Insulin dependent diabetes mellitus secretory diarrhea syndrome 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.

Insulin dependent diabetes mellitus secretory diarrhea syndrome Hyper-immunoglobulin e syndrome 2, autosomal recessive, with recurrent infections Hyper-immunoglobulin e syndrome with recurrent infections Intellectual developmental disorder, autosomal dominant 2 Ritscher-schinzel syndrome 2

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Insulin dependent diabetes mellitus secretory diarrhea syndrome	4	4	3
Hyper-immunoglobulin e syndrome 2, autosomal recessive, with recurrent infections	3	3	1
Hyper-immunoglobulin e syndrome with recurrent infections	3	3	1
Intellectual developmental disorder, autosomal dominant 2	3	3	1
Ritscher-schinzel syndrome 2	1	1	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
DOCK8	4 / 5	Hyper-immunoglobulin e syndrome 2, autosomal recessive, with recurrent infections, Hyper-immunoglobulin e syndrome with recurrent infections, Insulin dependent diabetes mellitus secretory diarrhea syndrome, Intellectual developmental disorder, autosomal dominant 2
CCDC22	2 / 5	Insulin dependent diabetes mellitus secretory diarrhea syndrome, Ritscher-schinzel syndrome 2

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 ⇵
RUNX1 regulates transcription of genes involved in WNT signaling FOXP3	Reactome	1 / 6	667×	1.50e-3	1.54e-2 ✓ sig.
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) FOXP3	Reactome	1 / 10	400×	2.50e-3	2.23e-2 ✓ sig.
Inflammatory bowel disease FOXP3	KEGG	1 / 66	60.7×	1.64e-2	7.63e-2
Factors involved in megakaryocyte development and platelet production DOCK8	Reactome	1 / 99	40.4×	2.45e-2	9.64e-2
Th17 cell differentiation FOXP3	KEGG	1 / 109	36.7×	2.70e-2	1.02e-1
Neddylation CCDC22	Reactome	1 / 234	17.1×	5.73e-2	1.57e-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 ⇵
memory T cell proliferation DOCK8	GO:0061485	1 / 1	6,229×	1.61e-4	4.34e-3 ✓ sig.
positive regulation of peripheral T cell tolerance induction FOXP3	GO:0002851	1 / 1	6,229×	1.61e-4	4.34e-3 ✓ sig.
T cell tolerance induction FOXP3	GO:0002517	1 / 2	3,115×	3.21e-4	7.04e-3 ✓ sig.
CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment FOXP3	GO:0002362	1 / 2	3,115×	3.21e-4	7.04e-3 ✓ sig.
establishment of endothelial blood-brain barrier FOXP3	GO:0014045	1 / 2	3,115×	3.21e-4	7.04e-3 ✓ sig.
negative regulation of chronic inflammatory response FOXP3	GO:0002677	1 / 3	2,076×	4.82e-4	9.24e-3 ✓ sig.
negative regulation of alpha-beta T cell proliferation FOXP3	GO:0046642	1 / 3	2,076×	4.82e-4	9.24e-3 ✓ sig.
isotype switching to IgE isotypes FOXP3	GO:0048289	1 / 3	2,076×	4.82e-4	9.24e-3 ✓ sig.
negative regulation of isotype switching to IgE isotypes FOXP3	GO:0048294	1 / 3	2,076×	4.82e-4	9.24e-3 ✓ sig.
negative regulation of CREB transcription factor activity FOXP3	GO:0032792	1 / 4	1,557×	6.42e-4	1.11e-2 ✓ sig.
regulatory T cell differentiation FOXP3	GO:0045066	1 / 4	1,557×	6.42e-4	1.11e-2 ✓ sig.
T cell anergy FOXP3	GO:0002870	1 / 4	1,557×	6.42e-4	1.11e-2 ✓ sig.
positive regulation of establishment of T cell polarity DOCK8	GO:1903905	1 / 4	1,557×	6.42e-4	1.11e-2 ✓ sig.
CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation FOXP3	GO:0002361	1 / 4	1,557×	6.42e-4	1.11e-2 ✓ sig.
tolerance induction FOXP3	GO:0002507	1 / 4	1,557×	6.42e-4	1.11e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Hyper-immunoglobulin e syndrome 2, autosomal recessive, with recurrent infections	Hyper-immunoglobulin e syndrome with recurrent infections	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Hyper-immunoglobulin e syndrome 2, autosomal recessive, with recurrent infections	Intellectual developmental disorder, autosomal dominant 2	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Hyper-immunoglobulin e syndrome with recurrent infections	Intellectual developmental disorder, autosomal dominant 2	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Hyper-immunoglobulin e syndrome 2, autosomal recessive, with recurrent infections	Insulin dependent diabetes mellitus secretory diarrhea syndrome	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Hyper-immunoglobulin e syndrome with recurrent infections	Insulin dependent diabetes mellitus secretory diarrhea syndrome	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Insulin dependent diabetes mellitus secretory diarrhea syndrome	Intellectual developmental disorder, autosomal dominant 2	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Insulin dependent diabetes mellitus secretory diarrhea syndrome	Ritscher-schinzel syndrome 2	0.250	1	1.94e-4	4.41e-4 ✓ sig.

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