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Cluster 433

5 diseases · 10 shared-gene connections
5 Diseases
3 Unique genes
0.375 Avg. similarity score
Reducing body myopathy 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 ⇵
Reducing body myopathy 4 4 1
Uruguay faciocardio-musculoskeletal syndrome 4 4 1
X-linked emery-dreifuss muscular dystrophy 4 4 2
X-linked myopathy 4 4 2
X-linked scapuloperoneal muscular dystrophy 4 4 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
FHL1 5 / 5 Reducing body myopathy, Uruguay faciocardio-musculoskeletal syndrome, X-linked emery-dreifuss muscular dystrophy, X-linked myopathy 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 ⇵
Cytoskeleton in muscle cells KEGG 2 / 232 34.5× 1.10e-3 1.46e-2 ✓ sig.
Nuclear Envelope Breakdown Reactome 1 / 9 445× 2.25e-3 2.48e-2 ✓ sig.
Depolymerisation of the Nuclear Lamina Reactome 1 / 15 267× 3.74e-3 3.59e-2 ✓ sig.
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane Reactome 1 / 16 250× 3.99e-3 3.77e-2 ✓ sig.
Initiation of Nuclear Envelope (NE) Reformation Reactome 1 / 19 211× 4.74e-3 4.23e-2 ✓ sig.
Arrhythmogenic right ventricular cardiomyopathy KEGG 1 / 86 46.6× 2.13e-2 1.07e-1
Hypertrophic cardiomyopathy KEGG 1 / 99 40.4× 2.45e-2 1.15e-1
Dilated cardiomyopathy KEGG 1 / 105 38.1× 2.60e-2 1.19e-1
JAK-STAT signaling pathway KEGG 1 / 168 23.8× 4.14e-2 1.54e-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 ⇵
muscle organ development GO:0007517 2 / 114 109× 1.10e-4 3.25e-3 ✓ sig.
vacuolar proton-transporting V-type ATPase complex assembly GO:0070072 1 / 6 1,038× 9.63e-4 1.47e-2 ✓ sig.
nuclear membrane organization GO:0071763 1 / 7 890× 1.12e-3 1.62e-2 ✓ sig.
regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 1 / 10 623× 1.60e-3 1.98e-2 ✓ sig.
negative regulation of G2/M transition of mitotic cell cycle GO:0010972 1 / 15 415× 2.41e-3 2.50e-2 ✓ sig.
positive regulation of potassium ion transmembrane transport GO:1901381 1 / 16 389× 2.57e-3 2.58e-2 ✓ sig.
positive regulation of protein export from nucleus GO:0046827 1 / 20 311× 3.21e-3 2.91e-2 ✓ sig.
lysosomal lumen acidification GO:0007042 1 / 25 249× 4.01e-3 3.28e-2 ✓ sig.
amyloid fibril formation GO:1990000 1 / 29 215× 4.65e-3 3.55e-2 ✓ sig.
negative regulation of fibroblast proliferation GO:0048147 1 / 35 178× 5.61e-3 3.88e-2 ✓ sig.
regulation of canonical Wnt signaling pathway GO:0060828 1 / 37 168× 5.93e-3 4.00e-2 ✓ sig.
skeletal muscle cell differentiation GO:0035914 1 / 49 127× 7.85e-3 4.58e-2 ✓ sig.
negative regulation of G1/S transition of mitotic cell cycle GO:2000134 1 / 58 107× 9.28e-3 4.96e-2 ✓ sig.
cellular response to growth factor stimulus GO:0071363 1 / 76 82.0× 1.22e-2 5.64e-2
muscle contraction GO:0006936 1 / 85 73.3× 1.36e-2 5.95e-2

Pairs within this cluster, by significance