Disease Clusters?

Groups of diseases that share a large number of curated genes with each other, computed via label propagation over the shared-gene similarity graph. See also Shared-Gene Disease Pairs for pairwise comparisons.

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Cluster 290

6 diseases · 12 shared-gene connections
6 Diseases
6 Unique genes
0.315 Avg. similarity score
Common arterial trunk with aortic dominance Most-connected disease (5 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 ⇵
Common arterial trunk with aortic dominance 5 5 2
Common arterial trunk with pulmonary dominance and interrupted aortic arch 5 5 2
Chromosome 22q11.2 microduplication syndrome 4 4 1
Conotruncal anomaly face syndrome 4 4 1
Velocardiofacial syndrome 4 4 5
GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes 2 2 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
TBX1 5 / 6 Chromosome 22q11.2 microduplication syndrome, Common arterial trunk with aortic dominance, Common arterial trunk with pulmonary dominance and interrupted aortic arch, Conotruncal anomaly face syndrome and 1 more
GATA6 3 / 6 Common arterial trunk with aortic dominance, Common arterial trunk with pulmonary dominance and interrupted aortic arch, GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes
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)

None of these pathways reaches significance (all FDR q ≥ 0.05). They’re the best candidates found, but treat them as weak evidence for why this cluster groups together.
Pathway ⇵ Source ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
MicroRNA (miRNA) biogenesis
DGCR8
 Reactome 1 / 24 83.4× 1.19e-2 7.61e-2
Surfactant metabolism
GATA6
 Reactome 1 / 29 69.0× 1.44e-2 8.52e-2
Factors involved in megakaryocyte development and platelet production
GATA6
 Reactome 1 / 99 20.2× 4.85e-2 1.69e-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 ⇵
outflow tract septum morphogenesis
TBX1, GATA6
 GO:0003148 2 / 28 222× 3.24e-5 1.29e-3 ✓ sig.
negative regulation of transforming growth factor beta2 production
GATA6
 GO:0032912 1 / 1 3,115× 3.21e-4 7.03e-3 ✓ sig.
negative regulation of sebum secreting cell proliferation
GATA6
 GO:1904003 1 / 1 3,115× 3.21e-4 7.03e-3 ✓ sig.
regulation of animal organ morphogenesis
TBX1
 GO:2000027 1 / 1 3,115× 3.21e-4 7.03e-3 ✓ sig.
epithelial cell differentiation
TBX1, GATA6
 GO:0030855 2 / 110 56.6× 5.07e-4 9.66e-3 ✓ sig.
regulation of antimicrobial humoral response
GATA6
 GO:0002759 1 / 2 1,557× 6.42e-4 1.13e-2 ✓ sig.
sebaceous gland cell differentiation
GATA6
 GO:0001949 1 / 2 1,557× 6.42e-4 1.13e-2 ✓ sig.
endodermal cell fate determination
GATA6
 GO:0007493 1 / 2 1,557× 6.42e-4 1.13e-2 ✓ sig.
vagus nerve morphogenesis
TBX1
 GO:0021644 1 / 2 1,557× 6.42e-4 1.13e-2 ✓ sig.
positive regulation of pre-miRNA processing
DGCR8
 GO:2000633 1 / 2 1,557× 6.42e-4 1.13e-2 ✓ sig.
positive regulation of tongue muscle cell differentiation
TBX1
 GO:2001037 1 / 2 1,557× 6.42e-4 1.13e-2 ✓ sig.
animal organ morphogenesis
DGCR2, DGCR6
 GO:0009887 2 / 130 47.9× 7.07e-4 1.21e-2 ✓ sig.
positive regulation of cardiac muscle myoblast proliferation
GATA6
 GO:0110024 1 / 3 1,038× 9.63e-4 1.47e-2 ✓ sig.
anatomical structure morphogenesis
TBX1, GATA6
 GO:0009653 2 / 160 38.9× 1.07e-3 1.57e-2 ✓ sig.
club cell differentiation
GATA6
 GO:0060486 1 / 4 779× 1.28e-3 1.75e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Common arterial trunk with aortic dominance Common arterial trunk with pulmonary dominance and interrupted aortic arch 0.667 2 8.44e-9 7.20e-8 ✓ sig.
Chromosome 22q11.2 microduplication syndrome Conotruncal anomaly face syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Chromosome 22q11.2 microduplication syndrome Common arterial trunk with aortic dominance 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Chromosome 22q11.2 microduplication syndrome Common arterial trunk with pulmonary dominance and interrupted aortic arch 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Common arterial trunk with aortic dominance Conotruncal anomaly face syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Common arterial trunk with aortic dominance GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Common arterial trunk with pulmonary dominance and interrupted aortic arch Conotruncal anomaly face syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Common arterial trunk with pulmonary dominance and interrupted aortic arch GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Chromosome 22q11.2 microduplication syndrome Velocardiofacial syndrome 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Conotruncal anomaly face syndrome Velocardiofacial syndrome 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Common arterial trunk with aortic dominance Velocardiofacial syndrome 0.143 1 6.49e-4 1.22e-3 ✓ sig.
Common arterial trunk with pulmonary dominance and interrupted aortic arch Velocardiofacial syndrome 0.143 1 6.49e-4 1.22e-3 ✓ sig.