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Cluster 400

5 diseases · 9 shared-gene connections
5 Diseases
33 Unique genes
0.163 Avg. similarity score
Chudley-mccullough syndrome Most-connected disease (4 links)
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Disease Searched: Chagas cardiomyopathy 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 ⇵
Chudley-mccullough syndrome 4 4 3
Neonatal anemia 4 4 1
Perinatal hemolytic anemia 4 4 1
Chagas cardiomyopathy 3 3 25
Hereditary elliptocytosis 3 3 7

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

Gene ⇵ Member diseases ⇵ Linked diseases
SPTB 5 / 5 Chagas cardiomyopathy, Chudley-mccullough syndrome, Hereditary elliptocytosis, Neonatal anemia 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 ⇵
Interaction between L1 and Ankyrins Reactome 2 / 13 56.0× 5.60e-4 9.03e-3 ✓ sig.
NCAM signaling for neurite out-growth Reactome 2 / 20 36.4× 1.35e-3 1.76e-2 ✓ sig.
COPI-mediated anterograde transport Reactome 3 / 101 10.8× 2.62e-3 2.88e-2 ✓ sig.
Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR) Reactome 1 / 1 364× 2.75e-3 2.97e-2 ✓ sig.
Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) Reactome 1 / 1 364× 2.75e-3 2.97e-2 ✓ sig.
RAF/MAP kinase cascade Reactome 3 / 124 8.8× 4.68e-3 4.32e-2 ✓ sig.
Activation and oligomerization of BAK protein Reactome 1 / 2 182× 5.49e-3 4.82e-2 ✓ sig.
GRB7 events in ERBB2 signaling Reactome 1 / 5 72.8× 1.37e-2 8.55e-2
Release of apoptotic factors from the mitochondria Reactome 1 / 5 72.8× 1.37e-2 8.55e-2
Melanoma KEGG 2 / 73 10.0× 1.70e-2 9.78e-2
Hydrolysis of LPC Reactome 1 / 9 40.4× 2.45e-2 1.20e-1
Erythrocytes take up oxygen and release carbon dioxide Reactome 1 / 9 40.4× 2.45e-2 1.20e-1
PI3K events in ERBB4 signaling Reactome 1 / 10 36.4× 2.71e-2 1.27e-1
Bicarbonate transporters Reactome 1 / 10 36.4× 2.71e-2 1.27e-1
Signaling by ERBB4 Reactome 1 / 11 33.1× 2.98e-2 1.33e-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 ⇵
actin filament capping GO:0051693 3 / 19 89.4× 4.77e-6 2.97e-4 ✓ sig.
positive regulation of protein localization to cell cortex GO:1904778 2 / 5 227× 3.01e-5 1.26e-3 ✓ sig.
endoplasmic reticulum calcium ion homeostasis GO:0032469 2 / 19 59.6× 5.08e-4 9.99e-3 ✓ sig.
actin cytoskeleton organization GO:0030036 4 / 234 9.7× 7.37e-4 1.29e-2 ✓ sig.
negative regulation of leukocyte adhesion to arterial endothelial cell GO:1904998 1 / 1 566× 1.77e-3 2.17e-2 ✓ sig.
ERBB3 signaling pathway GO:0038129 1 / 1 566× 1.77e-3 2.17e-2 ✓ sig.
positive regulation of peptidyl-tyrosine autophosphorylation GO:1900086 1 / 1 566× 1.77e-3 2.17e-2 ✓ sig.
pH elevation GO:0045852 1 / 1 566× 1.77e-3 2.17e-2 ✓ sig.
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 2 / 37 30.6× 1.94e-3 2.29e-2 ✓ sig.
actin filament organization GO:0007015 3 / 152 11.2× 2.41e-3 2.59e-2 ✓ sig.
blood vessel remodeling GO:0001974 2 / 42 27.0× 2.49e-3 2.65e-2 ✓ sig.
regulation of biological quality GO:0065008 2 / 45 25.2× 2.86e-3 2.86e-2 ✓ sig.
positive regulation of protein-containing complex assembly GO:0031334 2 / 50 22.7× 3.51e-3 3.16e-2 ✓ sig.
regulation of intestinal absorption GO:1904478 1 / 2 283× 3.53e-3 3.16e-2 ✓ sig.
B cell negative selection GO:0002352 1 / 2 283× 3.53e-3 3.16e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Neonatal anemia Perinatal hemolytic anemia 0.500 1 6.49e-5 2.33e-4 ✓ sig.
Chudley-mccullough syndrome Neonatal anemia 0.250 1 1.95e-4 5.35e-4 ✓ sig.
Chudley-mccullough syndrome Perinatal hemolytic anemia 0.250 1 1.95e-4 5.35e-4 ✓ sig.
Hereditary elliptocytosis Neonatal anemia 0.125 1 4.55e-4 9.73e-4 ✓ sig.
Hereditary elliptocytosis Perinatal hemolytic anemia 0.125 1 4.55e-4 9.73e-4 ✓ sig.
Chudley-mccullough syndrome Hereditary elliptocytosis 0.100 1 1.36e-3 2.15e-3 ✓ sig.
Chagas cardiomyopathy Neonatal anemia 0.038 1 1.62e-3 2.46e-3 ✓ sig.
Chagas cardiomyopathy Perinatal hemolytic anemia 0.038 1 1.62e-3 2.46e-3 ✓ sig.
Chagas cardiomyopathy Chudley-mccullough syndrome 0.036 1 4.86e-3 5.99e-3 ✓ sig.