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Cluster 399

6 diseases · 7 shared-gene connections
6 Diseases
41 Unique genes
0.118 Avg. similarity score
Vertebral column disorder Most-connected disease (4 links)
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Disease Searched: Abnormality of finger 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 ⇵
Vertebral column disorder 4 4 13
Spondylosis 3 3 30
Abnormality of finger 2 2 1
Abnormality of the thumb 2 2 1
Lamb-shaffer syndrome 2 2 1
Spastic tetraplegia 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
HEATR3 3 / 6 Abnormality of finger, Abnormality of the thumb, Vertebral column disorder
SOX5 3 / 6 Lamb-shaffer syndrome, Spondylosis, Vertebral column disorder
HLA-B 2 / 6 Spondylosis, Vertebral column disorder
KCNC2 2 / 6 Spastic tetraplegia, Spondylosis
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 ⇵
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate KEGG 2 / 21 27.9× 2.29e-3 2.11e-2 ✓ sig.
Glycosaminoglycan biosynthesis - heparan sulfate / heparin KEGG 2 / 24 24.4× 2.99e-3 2.54e-2 ✓ sig.
TGF-beta signaling pathway KEGG 3 / 108 8.1× 5.88e-3 4.06e-2 ✓ sig.
Endocytosis KEGG 4 / 250 4.7× 1.01e-2 5.74e-2
FGFR1c and Klotho ligand binding and activation Reactome 1 / 3 97.6× 1.02e-2 5.76e-2
SMAD4 MH2 Domain Mutants in Cancer Reactome 1 / 3 97.6× 1.02e-2 5.76e-2
SMAD2/3 MH2 Domain Mutants in Cancer Reactome 1 / 3 97.6× 1.02e-2 5.76e-2
Hippo signaling pathway KEGG 3 / 157 5.6× 1.63e-2 7.60e-2
RUNX3 regulates BCL2L11 (BIM) transcription Reactome 1 / 5 58.6× 1.70e-2 7.80e-2
Cell adhesion molecules KEGG 3 / 160 5.5× 1.71e-2 7.84e-2
Signaling by NODAL Reactome 1 / 6 48.8× 2.03e-2 8.65e-2
SMAD2/3 Phosphorylation Motif Mutants in Cancer Reactome 1 / 6 48.8× 2.03e-2 8.65e-2
TGFBR1 KD Mutants in Cancer Reactome 1 / 6 48.8× 2.03e-2 8.65e-2
RUNX3 regulates CDKN1A transcription Reactome 1 / 7 41.8× 2.37e-2 9.45e-2
2-LTR circle formation Reactome 1 / 7 41.8× 2.37e-2 9.45e-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 chondrocyte differentiation GO:0032332 3 / 20 68.4× 1.09e-5 5.81e-4 ✓ sig.
positive regulation of bone mineralization GO:0030501 3 / 42 32.6× 1.06e-4 3.23e-3 ✓ sig.
response to angiotensin GO:1990776 2 / 12 76.0× 3.06e-4 6.87e-3 ✓ sig.
response to magnesium ion GO:0032026 2 / 12 76.0× 3.06e-4 6.87e-3 ✓ sig.
regulation of ARF protein signal transduction GO:0032012 2 / 19 48.0× 7.84e-4 1.27e-2 ✓ sig.
cartilage development GO:0051216 3 / 89 15.4× 9.77e-4 1.44e-2 ✓ sig.
chondroitin sulfate proteoglycan biosynthetic process GO:0050650 2 / 26 35.1× 1.48e-3 1.82e-2 ✓ sig.
heparan sulfate proteoglycan biosynthetic process GO:0015012 2 / 30 30.4× 1.97e-3 2.10e-2 ✓ sig.
establishment of integrated proviral latency GO:0075713 1 / 1 456× 2.19e-3 2.23e-2 ✓ sig.
mercury ion transport GO:0015694 1 / 1 456× 2.19e-3 2.23e-2 ✓ sig.
leukocyte adhesion to arterial endothelial cell GO:0061757 1 / 1 456× 2.19e-3 2.23e-2 ✓ sig.
plasma membrane selenite transport GO:0097080 1 / 1 456× 2.19e-3 2.23e-2 ✓ sig.
mitochondrial manganese ion transmembrane transport GO:1990540 1 / 1 456× 2.19e-3 2.23e-2 ✓ sig.
negative regulation of lung blood pressure GO:0061767 1 / 1 456× 2.19e-3 2.23e-2 ✓ sig.
mitotic DNA integrity checkpoint signaling GO:0044774 1 / 1 456× 2.19e-3 2.23e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Abnormality of finger Abnormality of the thumb 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Spondylosis Vertebral column disorder 0.048 2 2.79e-4 5.82e-4 ✓ sig.
Abnormality of finger Vertebral column disorder 0.071 1 8.39e-4 1.34e-3 ✓ sig.
Abnormality of the thumb Vertebral column disorder 0.071 1 8.39e-4 1.34e-3 ✓ sig.
Lamb-shaffer syndrome Vertebral column disorder 0.071 1 8.39e-4 1.34e-3 ✓ sig.
Lamb-shaffer syndrome Spondylosis 0.032 1 1.94e-3 2.65e-3 ✓ sig.
Spastic tetraplegia Spondylosis 0.032 1 1.94e-3 2.65e-3 ✓ sig.