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Cluster 398

5 diseases · 10 shared-gene connections
5 Diseases
17 Unique genes
0.197 Avg. similarity score
Arachnodactyly 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)

Disease ⇵ Connections in cluster ⇵ Significant partners ⇵ Curated genes ⇵
Arachnodactyly 4 4 5
Byzanthine arch palate 4 4 13
Ck syndrome 4 4 1
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 4 4 1
Perisylvian polymicrogyria 4 4 2

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

Gene ⇵ Member diseases ⇵ Linked diseases
NSDHL 5 / 5 Arachnodactyly, Byzanthine arch palate, Ck syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects and 1 more
FBN1 2 / 5 Arachnodactyly, Byzanthine arch palate
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 ⇵
Gastric cancer KEGG 4 / 150 18.8× 4.90e-5 1.26e-3 ✓ sig.
Proteoglycans in cancer KEGG 4 / 204 13.9× 1.62e-4 3.31e-3 ✓ sig.
Pathways in cancer KEGG 5 / 533 6.6× 6.70e-4 1.00e-2 ✓ sig.
Yersinia infection KEGG 3 / 138 15.4× 8.97e-4 1.25e-2 ✓ sig.
Signaling pathways regulating pluripotency of stem cells KEGG 3 / 144 14.7× 1.01e-3 1.37e-2 ✓ sig.
Molecules associated with elastic fibres Reactome 2 / 38 37.2× 1.29e-3 1.64e-2 ✓ sig.
Signaling by FGFR2 amplification mutants Reactome 1 / 1 706× 1.42e-3 1.76e-2 ✓ sig.
Signaling by FGFR2 fusions Reactome 1 / 1 706× 1.42e-3 1.76e-2 ✓ sig.
Human immunodeficiency virus 1 infection KEGG 3 / 213 10.0× 3.11e-3 3.16e-2 ✓ sig.
VEGF signaling pathway KEGG 2 / 60 23.5× 3.18e-3 3.21e-2 ✓ sig.
Basal cell carcinoma KEGG 2 / 63 22.4× 3.50e-3 3.43e-2 ✓ sig.
Regulation of actin cytoskeleton KEGG 3 / 232 9.1× 3.96e-3 3.75e-2 ✓ sig.
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors Reactome 1 / 3 235× 4.24e-3 3.93e-2 ✓ sig.
Central carbon metabolism in cancer KEGG 2 / 71 19.9× 4.43e-3 4.04e-2 ✓ sig.
EGFR tyrosine kinase inhibitor resistance KEGG 2 / 80 17.7× 5.59e-3 4.71e-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 ⇵
post-embryonic eye morphogenesis GO:0048050 2 / 3 733× 2.34e-6 1.63e-4 ✓ sig.
prostate epithelial cord elongation GO:0060523 2 / 3 733× 2.34e-6 1.63e-4 ✓ sig.
peptidyl-tyrosine phosphorylation GO:0018108 3 / 39 84.6× 5.60e-6 3.28e-4 ✓ sig.
epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 2 / 5 440× 7.78e-6 4.28e-4 ✓ sig.
mesenchymal cell proliferation involved in lung development GO:0060916 2 / 5 440× 7.78e-6 4.28e-4 ✓ sig.
branching involved in prostate gland morphogenesis GO:0060442 2 / 6 366× 1.17e-5 5.87e-4 ✓ sig.
regulation of cell differentiation GO:0045595 3 / 54 61.1× 1.51e-5 7.21e-4 ✓ sig.
lung lobe morphogenesis GO:0060463 2 / 8 275× 2.17e-5 9.59e-4 ✓ sig.
limb bud formation GO:0060174 2 / 9 244× 2.79e-5 1.16e-3 ✓ sig.
lung-associated mesenchyme development GO:0060484 2 / 9 244× 2.79e-5 1.16e-3 ✓ sig.
camera-type eye development GO:0043010 3 / 74 44.6× 3.90e-5 1.49e-3 ✓ sig.
embryonic eye morphogenesis GO:0048048 2 / 11 200× 4.26e-5 1.60e-3 ✓ sig.
branching involved in salivary gland morphogenesis GO:0060445 2 / 12 183× 5.11e-5 1.83e-3 ✓ sig.
regulation of osteoblast differentiation GO:0045667 2 / 17 129× 1.05e-4 3.14e-3 ✓ sig.
angiogenesis GO:0001525 4 / 284 15.5× 1.06e-4 3.17e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Arachnodactyly Byzanthine arch palate 0.118 2 6.57e-6 3.53e-5 ✓ sig.
Ck syndrome Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Ck syndrome Perisylvian polymicrogyria 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Perisylvian polymicrogyria 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Arachnodactyly Ck syndrome 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Arachnodactyly Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Arachnodactyly Perisylvian polymicrogyria 0.143 1 6.49e-4 1.22e-3 ✓ sig.
Byzanthine arch palate Ck syndrome 0.071 1 8.44e-4 1.48e-3 ✓ sig.
Byzanthine arch palate Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 0.071 1 8.44e-4 1.48e-3 ✓ sig.
Byzanthine arch palate Perisylvian polymicrogyria 0.067 1 1.69e-3 2.51e-3 ✓ sig.