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Cluster 264

7 diseases · 11 shared-gene connections
7 Diseases
14 Unique genes
0.240 Avg. similarity score
Specific learning disability Most-connected disease (5 links)
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Disease Searched: Developmental delay with behavioral abnormalities 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)

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

Gene ⇵ Member diseases ⇵ Linked diseases
DNMT3A 5 / 7 Clonal cytopenia of undetermined significance, heyn-sproul-jackson syndrome, Microcephalic dwarfism, Specific learning disability and 1 more
ADGRL1 2 / 7 Developmental delay with behavioral abnormalities, Specific learning disability
RPS6KA3 2 / 7 coffin-lowry syndrome, Specific learning disability
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 ⇵
Toxoplasmosis KEGG 4 / 112 71.5× 1.06e-7 6.89e-6 ✓ sig.
Tuberculosis KEGG 4 / 181 44.2× 7.31e-7 3.71e-5 ✓ sig.
Interleukin-10 signaling Reactome 3 / 47 128× 1.11e-6 5.37e-5 ✓ sig.
Cytokine-cytokine receptor interaction KEGG 4 / 298 26.9× 5.36e-6 2.01e-4 ✓ sig.
Viral protein interaction with cytokine and cytokine receptor KEGG 3 / 100 60.1× 1.10e-5 3.63e-4 ✓ sig.
JAK-STAT signaling pathway KEGG 3 / 168 35.7× 5.21e-5 1.32e-3 ✓ sig.
Human cytomegalovirus infection KEGG 3 / 226 26.6× 1.26e-4 2.70e-3 ✓ sig.
Intestinal immune network for IgA production KEGG 2 / 50 80.1× 2.52e-4 4.68e-3 ✓ sig.
Malaria KEGG 2 / 50 80.1× 2.52e-4 4.68e-3 ✓ sig.
Inflammatory bowel disease KEGG 2 / 66 60.7× 4.40e-4 7.21e-3 ✓ sig.
Leishmaniasis KEGG 2 / 78 51.3× 6.14e-4 9.37e-3 ✓ sig.
Influenza Virus Induced Apoptosis Reactome 1 / 2 1,001× 9.99e-4 1.35e-2 ✓ sig.
The IPAF inflammasome Reactome 1 / 2 1,001× 9.99e-4 1.35e-2 ✓ sig.
TGFBR2 MSI Frameshift Mutants in Cancer Reactome 1 / 2 1,001× 9.99e-4 1.35e-2 ✓ sig.
Chagas disease KEGG 2 / 103 38.9× 1.07e-3 1.43e-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 ⇵
ERBB signaling pathway GO:0038127 2 / 4 667× 3.12e-6 2.10e-4 ✓ sig.
Bergmann glial cell differentiation GO:0060020 2 / 11 243× 2.86e-5 1.19e-3 ✓ sig.
positive regulation of cell differentiation GO:0045597 3 / 83 48.2× 2.97e-5 1.23e-3 ✓ sig.
hormone metabolic process GO:0042445 2 / 25 107× 1.55e-4 4.28e-3 ✓ sig.
insulin-like growth factor receptor signaling pathway GO:0048009 2 / 33 80.9× 2.72e-4 6.37e-3 ✓ sig.
hormone-mediated signaling pathway GO:0009755 2 / 42 63.6× 4.41e-4 8.96e-3 ✓ sig.
regulation of response to nutrient levels GO:0032107 1 / 1 1,335× 7.49e-4 1.28e-2 ✓ sig.
negative regulation of cortisol secretion GO:0051463 1 / 1 1,335× 7.49e-4 1.28e-2 ✓ sig.
negative regulation of growth hormone secretion GO:0060125 1 / 1 1,335× 7.49e-4 1.28e-2 ✓ sig.
intestinal epithelial cell migration GO:0061582 1 / 1 1,335× 7.49e-4 1.28e-2 ✓ sig.
cellular response to amino acid starvation GO:0034198 2 / 60 44.5× 9.00e-4 1.45e-2 ✓ sig.
epidermal growth factor receptor signaling pathway GO:0007173 2 / 64 41.7× 1.02e-3 1.56e-2 ✓ sig.
TORC1 signaling GO:0038202 2 / 67 39.8× 1.12e-3 1.66e-2 ✓ sig.
cytosine metabolic process GO:0019858 1 / 2 667× 1.50e-3 1.95e-2 ✓ sig.
microvillus organization GO:0032528 1 / 2 667× 1.50e-3 1.95e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
heyn-sproul-jackson syndrome Microcephalic dwarfism 0.500 1 6.49e-5 2.32e-4 ✓ sig.
heyn-sproul-jackson syndrome Tatton-Brown-Rahman overgrowth syndrome 0.500 1 6.49e-5 2.32e-4 ✓ sig.
Microcephalic dwarfism Tatton-Brown-Rahman overgrowth syndrome 0.500 1 6.49e-5 2.32e-4 ✓ sig.
Clonal cytopenia of undetermined significance Microcephalic dwarfism 0.250 1 1.95e-4 5.32e-4 ✓ sig.
Clonal cytopenia of undetermined significance heyn-sproul-jackson syndrome 0.250 1 1.95e-4 5.32e-4 ✓ sig.
Clonal cytopenia of undetermined significance Tatton-Brown-Rahman overgrowth syndrome 0.250 1 1.95e-4 5.32e-4 ✓ sig.
coffin-lowry syndrome Specific learning disability 0.077 1 7.79e-4 1.40e-3 ✓ sig.
Developmental delay with behavioral abnormalities Specific learning disability 0.077 1 7.79e-4 1.40e-3 ✓ sig.
Microcephalic dwarfism Specific learning disability 0.077 1 7.79e-4 1.40e-3 ✓ sig.
heyn-sproul-jackson syndrome Specific learning disability 0.077 1 7.79e-4 1.40e-3 ✓ sig.
Specific learning disability Tatton-Brown-Rahman overgrowth syndrome 0.077 1 7.79e-4 1.40e-3 ✓ sig.