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Cluster 380

5 diseases · 5 shared-gene connections
5 Diseases
14 Unique genes
0.134 Avg. similarity score
Apraxia Most-connected disease (4 links)
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Disease Searched: Marinesco-sjogren syndrome 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 ⇵
Apraxia 4 4 10
Cataplexy 2 2 1
Ophthalmoplegia 2 2 2
Developmental delay with variable intellectual disability 1 1 2
Marinesco-sjogren syndrome 1 1 3

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

Gene ⇵ Member diseases ⇵ Linked diseases
NPC1 3 / 5 Apraxia, Cataplexy, Ophthalmoplegia
JARID2 2 / 5 Apraxia, Developmental delay with variable intellectual disability
SIL1 2 / 5 Apraxia, Marinesco-sjogren syndrome
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 ⇵
Virion - Ebolavirus, Lyssavirus and Morbillivirus KEGG 1 / 12 71.5× 1.39e-2 8.64e-2
LDL clearance Reactome 1 / 18 47.7× 2.08e-2 1.09e-1
Adherens junctions interactions Reactome 1 / 32 26.8× 3.67e-2 1.49e-1
Cholesterol metabolism KEGG 1 / 51 16.8× 5.79e-2 1.90e-1
Synthesis of PIPs at the plasma membrane Reactome 1 / 51 16.8× 5.79e-2 1.90e-1
Hedgehog signaling pathway KEGG 1 / 56 15.3× 6.34e-2 2.00e-1
Hedgehog 'off' state Reactome 1 / 56 15.3× 6.34e-2 2.00e-1
Degradation of GLI1 by the proteasome Reactome 1 / 57 15.1× 6.45e-2 2.02e-1
GLI3 is processed to GLI3R by the proteasome Reactome 1 / 60 14.3× 6.78e-2 2.07e-1
Basal cell carcinoma KEGG 1 / 63 13.6× 7.10e-2 2.13e-1
Hedgehog 'on' state Reactome 1 / 70 12.3× 7.86e-2 2.25e-1
Inositol phosphate metabolism KEGG 1 / 73 11.8× 8.19e-2 2.29e-1
PRC2 methylates histones and DNA Reactome 1 / 73 11.8× 8.19e-2 2.29e-1
Polycomb repressive complex KEGG 1 / 83 10.3× 9.26e-2 2.44e-1
Lysosome KEGG 1 / 133 6.5× 1.44e-1 3.11e-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 ⇵
negative regulation of neuron remodeling GO:1904800 1 / 1 1,335× 7.49e-4 1.30e-2 ✓ sig.
negative regulation of branching morphogenesis of a nerve GO:2000173 1 / 1 1,335× 7.49e-4 1.30e-2 ✓ sig.
caudate nucleus development GO:0021757 1 / 1 1,335× 7.49e-4 1.30e-2 ✓ sig.
putamen development GO:0021758 1 / 1 1,335× 7.49e-4 1.30e-2 ✓ sig.
cyclodextrin metabolic process GO:2000900 1 / 1 1,335× 7.49e-4 1.30e-2 ✓ sig.
protein localization to pericentric heterochromatin GO:1902682 1 / 1 1,335× 7.49e-4 1.30e-2 ✓ sig.
positive regulation of cellular response to drug GO:2001040 1 / 1 1,335× 7.49e-4 1.30e-2 ✓ sig.
positive regulation of renal water transport GO:2001153 1 / 1 1,335× 7.49e-4 1.30e-2 ✓ sig.
smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 1 / 2 667× 1.50e-3 1.98e-2 ✓ sig.
negative regulation of RNA biosynthetic process GO:1902679 1 / 2 667× 1.50e-3 1.98e-2 ✓ sig.
liver development GO:0001889 2 / 87 30.7× 1.88e-3 2.26e-2 ✓ sig.
negative regulation of protein homooligomerization GO:0032463 1 / 3 445× 2.25e-3 2.50e-2 ✓ sig.
smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 1 / 3 445× 2.25e-3 2.50e-2 ✓ sig.
intracellular lipid transport GO:0032365 1 / 3 445× 2.25e-3 2.50e-2 ✓ sig.
negative regulation of dendrite extension GO:1903860 1 / 4 334× 2.99e-3 2.93e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Cataplexy Ophthalmoplegia 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Apraxia Cataplexy 0.091 1 6.49e-4 1.24e-3 ✓ sig.
Apraxia Ophthalmoplegia 0.083 1 1.30e-3 2.06e-3 ✓ sig.
Apraxia Developmental delay with variable intellectual disability 0.083 1 1.30e-3 2.06e-3 ✓ sig.
Apraxia Marinesco-sjogren syndrome 0.077 1 1.95e-3 2.83e-3 ✓ sig.