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Cluster 345

6 diseases · 11 shared-gene connections
6 Diseases
10 Unique genes
0.245 Avg. similarity score
Cerebellar diseases 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 ⇵
Cerebellar diseases 5 5 7
Bone marrow diseases 4 4 4
Revesz debuse syndrome 4 4 1
Revesz syndrome 4 4 1
dyskeratosis congenita, autosomal dominant 3 4 4 1
Mowat-wilson syndrome 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
TINF2 5 / 6 Bone marrow diseases, Cerebellar diseases, dyskeratosis congenita, autosomal dominant 3, Revesz debuse syndrome and 1 more
ZEB2 2 / 6 Cerebellar diseases, Mowat-wilson 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)

Pathway ⇵ Source ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
Nitric oxide stimulates guanylate cyclase Reactome 1 / 3 400× 2.50e-3 2.69e-2 ✓ sig.
Anchoring of the basal body to the plasma membrane Reactome 2 / 98 24.5× 2.84e-3 2.96e-2 ✓ sig.
Telomere Extension By Telomerase Reactome 1 / 16 75.1× 1.32e-2 8.07e-2
Phase I - Functionalization of compounds Reactome 1 / 21 57.2× 1.74e-2 9.50e-2
Arginine biosynthesis KEGG 1 / 23 52.2× 1.90e-2 9.98e-2
Dopamine Neurotransmitter Release Cycle Reactome 1 / 23 52.2× 1.90e-2 9.98e-2
Glutathione conjugation Reactome 1 / 24 50.0× 1.98e-2 1.02e-1
Neurexins and neuroligins Reactome 1 / 32 37.5× 2.63e-2 1.20e-1
ROS and RNS production in phagocytes Reactome 1 / 34 35.3× 2.80e-2 1.24e-1
Detoxification of Reactive Oxygen Species Reactome 1 / 34 35.3× 2.80e-2 1.24e-1
ABC transporters KEGG 1 / 45 26.7× 3.69e-2 1.45e-1
Arginine and proline metabolism KEGG 1 / 50 24.0× 4.09e-2 1.53e-1
Packaging Of Telomere Ends Reactome 1 / 52 23.1× 4.25e-2 1.57e-1
Ion homeostasis Reactome 1 / 54 22.2× 4.41e-2 1.60e-1
Recognition and association of DNA glycosylase with site containing an affected purine Reactome 1 / 56 21.4× 4.57e-2 1.63e-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 ⇵
hindbrain development GO:0030902 2 / 20 187× 4.87e-5 1.76e-3 ✓ sig.
central nervous system development GO:0007417 3 / 158 35.5× 6.81e-5 2.27e-3 ✓ sig.
retina layer formation GO:0010842 2 / 27 138× 8.98e-5 2.79e-3 ✓ sig.
positive regulation of transcription by RNA polymerase II GO:0045944 5 / 1,208 7.7× 2.14e-4 5.29e-3 ✓ sig.
cerebellum development GO:0021549 2 / 55 68.0× 3.77e-4 7.85e-3 ✓ sig.
nitric oxide storage GO:0035732 1 / 1 1,869× 5.35e-4 9.98e-3 ✓ sig.
synaptic signaling by nitric oxide GO:0099163 1 / 1 1,869× 5.35e-4 9.98e-3 ✓ sig.
positive regulation of sodium ion transmembrane transport GO:1902307 1 / 1 1,869× 5.35e-4 9.98e-3 ✓ sig.
positive regulation of polarized epithelial cell differentiation GO:0030862 1 / 1 1,869× 5.35e-4 9.98e-3 ✓ sig.
cloaca development GO:0035844 1 / 1 1,869× 5.35e-4 9.98e-3 ✓ sig.
pronephric nephron tubule morphogenesis GO:0039008 1 / 1 1,869× 5.35e-4 9.98e-3 ✓ sig.
quinone catabolic process GO:1901662 1 / 1 1,869× 5.35e-4 9.98e-3 ✓ sig.
regulation of telomere maintenance via telomere lengthening GO:1904356 1 / 1 1,869× 5.35e-4 9.98e-3 ✓ sig.
mammillary axonal complex development GO:0061373 1 / 1 1,869× 5.35e-4 9.98e-3 ✓ sig.
positive regulation of myofibroblast contraction GO:1904330 1 / 1 1,869× 5.35e-4 9.98e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
dyskeratosis congenita, autosomal dominant 3 Revesz debuse syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
dyskeratosis congenita, autosomal dominant 3 Revesz syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Revesz debuse syndrome Revesz syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Bone marrow diseases Revesz debuse syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Bone marrow diseases Revesz syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Bone marrow diseases dyskeratosis congenita, autosomal dominant 3 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Cerebellar diseases Mowat-wilson syndrome 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Cerebellar diseases Revesz debuse syndrome 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Cerebellar diseases Revesz syndrome 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Cerebellar diseases dyskeratosis congenita, autosomal dominant 3 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Bone marrow diseases Cerebellar diseases 0.091 1 1.82e-3 2.66e-3 ✓ sig.