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Cluster 407

5 diseases · 6 shared-gene connections
5 Diseases
50 Unique genes
0.239 Avg. similarity score
Malignant peripheral nerve sheath tumor Most-connected disease (3 links)
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Disease Searched: Small vessel stroke 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 ⇵
Malignant peripheral nerve sheath tumor 3 3 2
Malignant triton tumor 3 3 2
Small vessel stroke 3 3 50
Carasil syndrome 2 2 1
spinocerebellar ataxia, autosomal recessive 31 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
HTRA1 4 / 5 Carasil syndrome, Malignant peripheral nerve sheath tumor, Malignant triton tumor, Small vessel stroke
SH3PXD2A 3 / 5 Malignant peripheral nerve sheath tumor, Malignant triton tumor, Small vessel stroke
ATG7 2 / 5 Small vessel stroke, spinocerebellar ataxia, autosomal recessive 31
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 ⇵
Inflammatory mediator regulation of TRP channels KEGG 4 / 99 9.7× 7.48e-4 1.08e-2 ✓ sig.
RAF/MAP kinase cascade Reactome 4 / 124 7.7× 1.73e-3 2.05e-2 ✓ sig.
Unblocking of NMDA receptors, glutamate binding and activation Reactome 2 / 22 21.8× 3.72e-3 3.57e-2 ✓ sig.
Oxytocin signaling pathway KEGG 4 / 154 6.2× 3.79e-3 3.61e-2 ✓ sig.
Defective GFPT1 causes CMSTA1 Reactome 1 / 1 240× 4.16e-3 3.86e-2 ✓ sig.
GnRH signaling pathway KEGG 3 / 93 7.7× 6.77e-3 5.36e-2
phospho-PLA2 pathway Reactome 1 / 2 120× 8.31e-3 6.14e-2
Glutamatergic synapse KEGG 3 / 116 6.2× 1.24e-2 7.93e-2
Biosynthesis of aspirin-triggered D-series resolvins Reactome 1 / 3 80.1× 1.24e-2 7.94e-2
Ferroptosis KEGG 2 / 42 11.4× 1.32e-2 8.22e-2
Phase 0 - rapid depolarisation Reactome 2 / 44 10.9× 1.44e-2 8.66e-2
Arachidonic acid metabolism Reactome 1 / 4 60.1× 1.66e-2 9.42e-2
Biosynthesis of D-series resolvins Reactome 1 / 4 60.1× 1.66e-2 9.42e-2
Biosynthesis of E-series 18(R)-resolvins Reactome 1 / 4 60.1× 1.66e-2 9.42e-2
Invadopodia formation Reactome 1 / 4 60.1× 1.66e-2 9.42e-2

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
regulation of neuronal synaptic plasticity GO:0048168 2 / 26 28.7× 2.19e-3 2.41e-2 ✓ sig.
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 2 / 28 26.7× 2.54e-3 2.64e-2 ✓ sig.
dADP biosynthetic process GO:0006173 1 / 1 374× 2.68e-3 2.70e-2 ✓ sig.
ERBB3 signaling pathway GO:0038129 1 / 1 374× 2.68e-3 2.70e-2 ✓ sig.
positive regulation of peptidyl-tyrosine autophosphorylation GO:1900086 1 / 1 374× 2.68e-3 2.70e-2 ✓ sig.
chemical synaptic transmission GO:0007268 4 / 236 6.3× 3.62e-3 3.18e-2 ✓ sig.
blood vessel diameter maintenance GO:0097746 2 / 37 20.2× 4.40e-3 3.48e-2 ✓ sig.
mammary gland development GO:0030879 2 / 37 20.2× 4.40e-3 3.48e-2 ✓ sig.
retrograde axonal protein transport GO:0099642 1 / 2 187× 5.34e-3 3.86e-2 ✓ sig.
negative regulation of Kit signaling pathway GO:1900235 1 / 2 187× 5.34e-3 3.86e-2 ✓ sig.
positive regulation of protein modification process GO:0031401 1 / 2 187× 5.34e-3 3.86e-2 ✓ sig.
ultradian rhythm GO:0007624 1 / 2 187× 5.34e-3 3.86e-2 ✓ sig.
phosphatidylglycerol catabolic process GO:0034478 1 / 2 187× 5.34e-3 3.86e-2 ✓ sig.
regulation of relaxation of cardiac muscle GO:1901897 1 / 2 187× 5.34e-3 3.86e-2 ✓ sig.
response to chlorate GO:0010157 1 / 2 187× 5.34e-3 3.86e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Malignant peripheral nerve sheath tumor Malignant triton tumor 0.667 2 8.44e-9 6.82e-8 ✓ sig.
Malignant peripheral nerve sheath tumor Small vessel stroke 0.039 2 1.03e-5 5.11e-5 ✓ sig.
Malignant triton tumor Small vessel stroke 0.039 2 1.03e-5 5.11e-5 ✓ sig.
Carasil syndrome Malignant peripheral nerve sheath tumor 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Carasil syndrome Malignant triton tumor 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Small vessel stroke spinocerebellar ataxia, autosomal recessive 31 0.020 1 3.25e-3 4.24e-3 ✓ sig.