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Cluster 383

5 diseases · 5 shared-gene connections
5 Diseases
32 Unique genes
0.143 Avg. similarity score
Middle ear cholesteatoma Most-connected disease (3 links)
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Disease Searched: IL21-related infantile inflammatory bowel 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)

Disease ⇵ Connections in cluster ⇵ Significant partners ⇵ Curated genes ⇵
Middle ear cholesteatoma 3 3 1
Cholesteatoma 2 2 5
Progressive supranuclear palsy 2 2 27
Vaginal neoplasms 2 2 2
IL21-related infantile inflammatory bowel disease 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
IL2 4 / 5 Cholesteatoma, Middle ear cholesteatoma, Progressive supranuclear palsy, Vaginal neoplasms
IL21 2 / 5 IL21-related infantile inflammatory bowel disease, Progressive supranuclear palsy
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 HK1 causes hexokinase deficiency (HK deficiency) Reactome 1 / 1 375× 2.66e-3 2.82e-2 ✓ sig.
Th17 cell differentiation KEGG 3 / 109 10.3× 2.98e-3 3.05e-2 ✓ sig.
Acetylation Reactome 1 / 2 188× 5.32e-3 4.56e-2 ✓ sig.
Inositol transporters Reactome 1 / 2 188× 5.32e-3 4.56e-2 ✓ sig.
Activation of gene expression by SREBF (SREBP) Reactome 2 / 42 17.9× 5.54e-3 4.69e-2 ✓ sig.
Yersinia infection KEGG 3 / 138 8.2× 5.77e-3 4.82e-2 ✓ sig.
Measles KEGG 3 / 139 8.1× 5.89e-3 4.89e-2 ✓ sig.
Alcoholic liver disease KEGG 3 / 144 7.8× 6.49e-3 5.22e-2
RUNX2 regulates osteoblast differentiation Reactome 1 / 3 125× 7.97e-3 5.98e-2
Autoimmune thyroid disease KEGG 2 / 54 13.9× 9.03e-3 6.49e-2
JAK-STAT signaling pathway KEGG 3 / 168 6.7× 9.90e-3 6.89e-2
RUNX2 regulates genes involved in differentiation of myeloid cells Reactome 1 / 4 93.8× 1.06e-2 7.20e-2
Herpes simplex virus 1 infection KEGG 3 / 182 6.2× 1.23e-2 7.89e-2
Neomycin, kanamycin and gentamicin biosynthesis KEGG 1 / 5 75.1× 1.33e-2 8.23e-2
PERK regulates gene expression Reactome 1 / 5 75.1× 1.33e-2 8.23e-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 ⇵
positive regulation of tissue remodeling GO:0034105 2 / 6 195× 4.24e-5 1.60e-3 ✓ sig.
positive regulation of amyloid-beta formation GO:1902004 2 / 21 55.6× 5.85e-4 1.07e-2 ✓ sig.
chondrocyte development GO:0002063 2 / 21 55.6× 5.85e-4 1.07e-2 ✓ sig.
positive regulation of interleukin-17 production GO:0032740 2 / 27 43.3× 9.71e-4 1.49e-2 ✓ sig.
positive regulation of immunoglobulin production GO:0002639 2 / 33 35.4× 1.45e-3 1.90e-2 ✓ sig.
plus-end-directed organelle transport along microtubule GO:0072386 1 / 1 584× 1.71e-3 2.10e-2 ✓ sig.
ligamentous ossification GO:0036076 1 / 1 584× 1.71e-3 2.10e-2 ✓ sig.
positive regulation of cell fate determination GO:1905935 1 / 1 584× 1.71e-3 2.10e-2 ✓ sig.
cellular response to wortmannin GO:1904568 1 / 1 584× 1.71e-3 2.10e-2 ✓ sig.
positive regulation of hydrogen sulfide biosynthetic process GO:1904828 1 / 1 584× 1.71e-3 2.10e-2 ✓ sig.
cell maturation GO:0048469 2 / 37 31.6× 1.82e-3 2.18e-2 ✓ sig.
positive regulation of cell population proliferation GO:0008284 5 / 532 5.5× 1.96e-3 2.26e-2 ✓ sig.
positive regulation of interleukin-10 production GO:0032733 2 / 43 27.2× 2.46e-3 2.58e-2 ✓ sig.
positive regulation of B cell proliferation GO:0030890 2 / 47 24.8× 2.93e-3 2.84e-2 ✓ sig.
neurofibrillary tangle assembly GO:1902988 1 / 2 292× 3.42e-3 3.08e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Middle ear cholesteatoma Vaginal neoplasms 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Cholesteatoma Middle ear cholesteatoma 0.167 1 3.25e-4 7.70e-4 ✓ sig.
Cholesteatoma Vaginal neoplasms 0.143 1 6.49e-4 1.24e-3 ✓ sig.
IL21-related infantile inflammatory bowel disease Progressive supranuclear palsy 0.036 1 1.75e-3 2.61e-3 ✓ sig.
Middle ear cholesteatoma Progressive supranuclear palsy 0.036 1 1.75e-3 2.61e-3 ✓ sig.