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Cluster 408

5 diseases · 9 shared-gene connections
5 Diseases
4 Unique genes
0.361 Avg. similarity score
Congenital factor ii deficiency 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 ⇵
Congenital factor ii deficiency 4 4 1
Congenital prothrombin deficiency 4 4 1
thrombophilia due to thrombin defect 4 4 1
Cerebral sinovenous thrombosis 3 3 3
Hemophilia b 3 3 2

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

Gene ⇵ Member diseases ⇵ Linked diseases
F2 5 / 5 Cerebral sinovenous thrombosis, Congenital factor ii deficiency, Congenital prothrombin deficiency, Hemophilia b and 1 more
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 ⇵
Gamma-carboxylation of protein precursors Reactome 3 / 9 1,001× 1.16e-9 1.28e-7 ✓ sig.
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus Reactome 3 / 9 1,001× 1.16e-9 1.28e-7 ✓ sig.
Removal of aminoterminal propeptides from gamma-carboxylated proteins Reactome 3 / 10 901× 1.66e-9 1.75e-7 ✓ sig.
Complement and coagulation cascades
F2, F5, F9
KEGG 3 / 88 102× 1.51e-6 6.96e-5 ✓ sig.
Common Pathway of Fibrin Clot Formation Reactome 2 / 22 273× 1.92e-5 5.79e-4 ✓ sig.
Intrinsic Pathway of Fibrin Clot Formation Reactome 2 / 23 261× 2.10e-5 6.24e-4 ✓ sig.
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Reactome 2 / 125 48.0× 6.36e-4 9.63e-3 ✓ sig.
Extrinsic Pathway of Fibrin Clot Formation Reactome 1 / 5 601× 1.66e-3 2.00e-2 ✓ sig.
Platelet Aggregation (Plug Formation) Reactome 1 / 8 375× 2.66e-3 2.83e-2 ✓ sig.
Thrombin signalling through proteinase activated receptors (PARs) Reactome 1 / 32 93.8× 1.06e-2 7.12e-2
Cargo concentration in the ER Reactome 1 / 33 91.0× 1.09e-2 7.25e-2
Regulation of Complement cascade Reactome 1 / 47 63.9× 1.56e-2 8.90e-2
COPII-mediated vesicle transport Reactome 1 / 68 44.2× 2.25e-2 1.10e-1
Cell surface interactions at the vascular wall Reactome 1 / 84 35.7× 2.77e-2 1.24e-1
Peptide ligand-binding receptors Reactome 1 / 106 28.3× 3.48e-2 1.40e-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 ⇵
hemostasis GO:0007599 4 / 55 340× 6.71e-11 2.00e-8 ✓ sig.
blood coagulation GO:0007596 4 / 106 176× 9.78e-10 2.20e-7 ✓ sig.
proteolysis GO:0006508 3 / 613 22.9× 1.37e-4 3.82e-3 ✓ sig.
response to vitamin K GO:0032571 1 / 3 1,557× 6.42e-4 1.13e-2 ✓ sig.
neutrophil-mediated killing of gram-negative bacterium GO:0070945 1 / 5 934× 1.07e-3 1.57e-2 ✓ sig.
regulation of body fluid levels GO:0050878 1 / 7 667× 1.50e-3 1.91e-2 ✓ sig.
positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway GO:1900738 1 / 7 667× 1.50e-3 1.91e-2 ✓ sig.
negative regulation of platelet activation GO:0010544 1 / 9 519× 1.93e-3 2.20e-2 ✓ sig.
cytolysis by host of symbiont cells GO:0051838 1 / 11 425× 2.35e-3 2.48e-2 ✓ sig.
ligand-gated ion channel signaling pathway GO:1990806 1 / 11 425× 2.35e-3 2.48e-2 ✓ sig.
negative regulation of astrocyte differentiation GO:0048712 1 / 11 425× 2.35e-3 2.48e-2 ✓ sig.
thrombin-activated receptor signaling pathway GO:0070493 1 / 11 425× 2.35e-3 2.48e-2 ✓ sig.
regulation of blood coagulation GO:0030193 1 / 11 425× 2.35e-3 2.48e-2 ✓ sig.
negative regulation of fibrinolysis GO:0051918 1 / 12 389× 2.57e-3 2.58e-2 ✓ sig.
positive regulation of blood coagulation GO:0030194 1 / 15 311× 3.21e-3 2.91e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Congenital factor ii deficiency Congenital prothrombin deficiency 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Congenital factor ii deficiency thrombophilia due to thrombin defect 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Congenital prothrombin deficiency thrombophilia due to thrombin defect 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Congenital factor ii deficiency Hemophilia b 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Congenital prothrombin deficiency Hemophilia b 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Hemophilia b thrombophilia due to thrombin defect 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Cerebral sinovenous thrombosis Congenital factor ii deficiency 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Cerebral sinovenous thrombosis Congenital prothrombin deficiency 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Cerebral sinovenous thrombosis thrombophilia due to thrombin defect 0.250 1 1.95e-4 5.28e-4 ✓ sig.