Disease Clusters?

Groups of diseases that share a large number of curated genes with each other, computed via label propagation over the shared-gene similarity graph. See also Shared-Gene Disease Pairs for pairwise comparisons.

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Cluster 379

5 diseases · 7 shared-gene connections
5 Diseases
8 Unique genes
0.197 Avg. similarity score
Aicardi goutieres syndrome 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 ⇵
Aicardi goutieres syndrome 4 4 8
Interferonopathy 4 4 4
RNASEH2A-related type 1 interferonopathy 2 2 1
RNASEH2B-related type 1 interferonopathy 2 2 1
RNASEH2C-related type 1 interferonopathy 2 2 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
RNASEH2A 3 / 5 Aicardi goutieres syndrome, Interferonopathy, RNASEH2A-related type 1 interferonopathy
RNASEH2B 3 / 5 Aicardi goutieres syndrome, Interferonopathy, RNASEH2B-related type 1 interferonopathy
RNASEH2C 3 / 5 Aicardi goutieres syndrome, Interferonopathy, RNASEH2C-related type 1 interferonopathy
SAMHD1 2 / 5 Aicardi goutieres syndrome, Interferonopathy
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 ⇵
DNA replication
RNASEH2A, RNASEH2B, RNASEH2C
 KEGG 3 / 36 125× 1.37e-6 6.42e-5 ✓ sig.
Cytosolic DNA-sensing pathway
ADAR, SAMHD1, TREX1
 KEGG 3 / 83 54.3× 1.74e-5 5.33e-4 ✓ sig.
Regulation by TREX1
TREX1
 Reactome 1 / 1 1,501× 6.66e-4 9.96e-3 ✓ sig.
Nucleobase catabolism
SAMHD1
 Reactome 1 / 1 1,501× 6.66e-4 9.96e-3 ✓ sig.
Interferon alpha/beta signaling
ADAR, SAMHD1
 Reactome 2 / 67 44.8× 8.40e-4 1.19e-2 ✓ sig.
RIG-I-like receptor signaling pathway
ADAR, IFIH1
 KEGG 2 / 72 41.7× 9.70e-4 1.33e-2 ✓ sig.
C6 deamination of adenosine
ADAR
 Reactome 1 / 2 751× 1.33e-3 1.68e-2 ✓ sig.
Formation of editosomes by ADAR proteins
ADAR
 Reactome 1 / 2 751× 1.33e-3 1.68e-2 ✓ sig.
Measles
ADAR, IFIH1
 KEGG 2 / 139 21.6× 3.56e-3 3.47e-2 ✓ sig.
Influenza A
ADAR, IFIH1
 KEGG 2 / 173 17.4× 5.46e-3 4.64e-2 ✓ sig.
SLBP independent Processing of Histone Pre-mRNAs
LSM11
 Reactome 1 / 10 150× 6.64e-3 5.28e-2
SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs
LSM11
 Reactome 1 / 11 136× 7.31e-3 5.62e-2
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
IFIH1
 Reactome 1 / 12 125× 7.97e-3 5.96e-2
IRF3-mediated induction of type I IFN
TREX1
 Reactome 1 / 13 115× 8.63e-3 6.28e-2
TRAF3-dependent IRF activation pathway
IFIH1
 Reactome 1 / 14 107× 9.29e-3 6.56e-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 ⇵
mismatch repair
RNASEH2A, RNASEH2B, RNASEH2C, TREX1
 GO:0006298 4 / 30 311× 3.76e-10 9.31e-8 ✓ sig.
negative regulation of type I interferon-mediated signaling pathway
ADAR, SAMHD1, TREX1
 GO:0060339 3 / 23 305× 9.08e-8 1.11e-5 ✓ sig.
RNA catabolic process
RNASEH2A, RNASEH2B, RNASEH2C
 GO:0006401 3 / 37 189× 3.97e-7 3.85e-5 ✓ sig.
defense response to virus
ADAR, IFIH1, SAMHD1, TREX1
 GO:0051607 4 / 247 37.8× 2.00e-6 1.44e-4 ✓ sig.
DNA replication
RNASEH2A, SAMHD1, TREX1
 GO:0006260 3 / 131 53.5× 1.84e-5 8.39e-4 ✓ sig.
innate immune response
ADAR, IFIH1, SAMHD1, TREX1
 GO:0045087 4 / 605 15.4× 6.86e-5 2.28e-3 ✓ sig.
regulation of innate immune response
SAMHD1, TREX1
 GO:0045088 2 / 32 146× 7.90e-5 2.54e-3 ✓ sig.
type I interferon-mediated signaling pathway
IFIH1, TREX1
 GO:0060337 2 / 59 79.2× 2.71e-4 6.25e-3 ✓ sig.
somatic diversification of immune receptors via somatic mutation
ADAR
 GO:0002566 1 / 1 2,336× 4.28e-4 8.59e-3 ✓ sig.
negative regulation of post-transcriptional gene silencing by regulatory ncRNA
ADAR
 GO:1900369 1 / 1 2,336× 4.28e-4 8.59e-3 ✓ sig.
ribonucleotide metabolic process
RNASEH2B
 GO:0009259 1 / 1 2,336× 4.28e-4 8.59e-3 ✓ sig.
immune response in brain or nervous system
TREX1
 GO:0002383 1 / 1 2,336× 4.28e-4 8.59e-3 ✓ sig.
immune complex formation
TREX1
 GO:0097281 1 / 1 2,336× 4.28e-4 8.59e-3 ✓ sig.
cellular response to virus
ADAR, IFIH1
 GO:0098586 2 / 89 52.5× 6.16e-4 1.11e-2 ✓ sig.
regulation of type III interferon production
IFIH1
 GO:0034344 1 / 2 1,168× 8.56e-4 1.36e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Aicardi goutieres syndrome Interferonopathy 0.444 4 2.99e-14 4.26e-13 ✓ sig.
Interferonopathy RNASEH2A-related type 1 interferonopathy 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Interferonopathy RNASEH2B-related type 1 interferonopathy 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Interferonopathy RNASEH2C-related type 1 interferonopathy 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Aicardi goutieres syndrome RNASEH2A-related type 1 interferonopathy 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Aicardi goutieres syndrome RNASEH2B-related type 1 interferonopathy 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Aicardi goutieres syndrome RNASEH2C-related type 1 interferonopathy 0.111 1 5.20e-4 1.04e-3 ✓ sig.