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Cluster 615

5 diseases · 5 shared-gene connections
5 Diseases
7 Unique genes
0.200 Avg. similarity score
Recurrent infections Most-connected disease (4 links)
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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.

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

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

Gene ⇵ Member diseases ⇵ Linked diseases
IL6R 3 / 5 Hyper-immunoglobulin e recurrent infection syndrome 5, autosomal recessive, Interleukin 6 quantitative trait, Recurrent infections
MS4A1 2 / 5 Immunodeficiency, common variable, 5, Recurrent infections
RELB 2 / 5 Immunodeficiency 53, Recurrent infections
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 ⇵
MAPK1 (ERK2) activation Reactome 2 / 9 381× 1.05e-5 3.02e-4 ✓ sig.
MAPK3 (ERK1) activation Reactome 2 / 10 343× 1.31e-5 3.64e-4 ✓ sig.
Interleukin-6 signaling Reactome 2 / 11 312× 1.60e-5 4.32e-4 ✓ sig.
Hematopoietic cell lineage KEGG 3 / 100 51.5× 1.91e-5 5.02e-4 ✓ sig.
Coronavirus disease - COVID-19 KEGG 3 / 238 21.6× 2.54e-4 3.95e-3 ✓ sig.
Viral protein interaction with cytokine and cytokine receptor KEGG 2 / 100 34.3× 1.40e-3 1.46e-2 ✓ sig.
Th17 cell differentiation KEGG 2 / 109 31.5× 1.66e-3 1.66e-2 ✓ sig.
JAK-STAT signaling pathway KEGG 2 / 168 20.4× 3.90e-3 3.08e-2 ✓ sig.
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant Reactome 1 / 7 245× 4.07e-3 3.17e-2 ✓ sig.
TNF signaling Reactome 1 / 7 245× 4.07e-3 3.17e-2 ✓ sig.
CD163 mediating an anti-inflammatory response Reactome 1 / 9 191× 5.24e-3 3.76e-2 ✓ sig.
Epstein-Barr virus infection KEGG 2 / 204 16.8× 5.70e-3 3.98e-2 ✓ sig.
Interleukin-27 signaling Reactome 1 / 11 156× 6.40e-3 4.28e-2 ✓ sig.
Regulated proteolysis of p75NTR Reactome 1 / 11 156× 6.40e-3 4.28e-2 ✓ sig.
Interleukin-35 Signalling Reactome 1 / 12 143× 6.97e-3 4.53e-2 ✓ sig.

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
response to cytokine GO:0034097 3 / 56 143× 8.85e-7 7.75e-5 ✓ sig.
ciliary neurotrophic factor-mediated signaling pathway GO:0070120 2 / 5 1,068× 1.20e-6 9.99e-5 ✓ sig.
interleukin-11-mediated signaling pathway GO:0038154 2 / 7 763× 2.52e-6 1.83e-4 ✓ sig.
B cell differentiation GO:0030183 3 / 80 100× 2.61e-6 1.88e-4 ✓ sig.
neutrophil mediated immunity GO:0002446 2 / 11 485× 6.60e-6 3.94e-4 ✓ sig.
positive regulation of leukocyte chemotaxis GO:0002690 2 / 13 411× 9.36e-6 5.17e-4 ✓ sig.
T-helper 17 cell lineage commitment GO:0072540 2 / 13 411× 9.36e-6 5.17e-4 ✓ sig.
positive regulation of platelet aggregation GO:1901731 2 / 13 411× 9.36e-6 5.17e-4 ✓ sig.
interleukin-6-mediated signaling pathway GO:0070102 2 / 16 334× 1.44e-5 7.22e-4 ✓ sig.
cell surface receptor signaling pathway via STAT GO:0097696 2 / 28 191× 4.53e-5 1.71e-3 ✓ sig.
B cell proliferation GO:0042100 2 / 38 141× 8.40e-5 2.72e-3 ✓ sig.
B cell activation GO:0042113 2 / 44 121× 1.13e-4 3.38e-3 ✓ sig.
positive regulation of chemokine production GO:0032722 2 / 49 109× 1.40e-4 3.94e-3 ✓ sig.
cell surface receptor signaling pathway via JAK-STAT GO:0007259 2 / 67 79.7× 2.63e-4 6.18e-3 ✓ sig.
positive regulation of osteoblast differentiation GO:0045669 2 / 78 68.5× 3.56e-4 7.58e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Hyper-immunoglobulin e recurrent infection syndrome 5, autosomal recessive Interleukin 6 quantitative trait 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Hyper-immunoglobulin e recurrent infection syndrome 5, autosomal recessive Recurrent infections 0.125 1 4.52e-4 8.26e-4 ✓ sig.
Immunodeficiency 53 Recurrent infections 0.125 1 4.52e-4 8.26e-4 ✓ sig.
Immunodeficiency, common variable, 5 Recurrent infections 0.125 1 4.52e-4 8.26e-4 ✓ sig.
Interleukin 6 quantitative trait Recurrent infections 0.125 1 4.52e-4 8.26e-4 ✓ sig.