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 150

9 diseases · 23 shared-gene connections
9 Diseases
17 Unique genes
0.223 Avg. similarity score
Chilblain lupus erythematosus Most-connected disease (8 links)
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Disease Searched: Aicardi goutieres 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 ⇵
Chilblain lupus erythematosus 8 8 5
Chilblain lupus 6 6 3
Type i interferonopathy 6 6 1
Aicardi goutieres syndrome 5 5 8
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 5 5 1
Cadasil 4 4 6
Deoxyguanosine kinase deficiency 4 4 2
Interferonopathy 4 4 4
Retinal vasculopathy with cerebral leukodystrophy 4 4 3

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

Gene ⇵ Member diseases ⇵ Linked diseases
TREX1 7 / 9 Aicardi goutieres syndrome, Cadasil, Chilblain lupus, Chilblain lupus erythematosus and 3 more
SAMHD1 5 / 9 Aicardi goutieres syndrome, Chilblain lupus, Chilblain lupus erythematosus, Deoxyguanosine kinase deficiency and 1 more
ATRIP 3 / 9 Cadasil, Chilblain lupus erythematosus, Retinal vasculopathy with cerebral leukodystrophy
RNASEH2A 2 / 9 Aicardi goutieres syndrome, Interferonopathy
RNASEH2B 2 / 9 Aicardi goutieres syndrome, Interferonopathy
RNASEH2C 2 / 9 Aicardi goutieres syndrome, Interferonopathy
STING1 2 / 9 Chilblain lupus, Chilblain lupus erythematosus
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 ⇵
Cytosolic DNA-sensing pathway
ADAR, SAMHD1, TREX1, STING1
 KEGG 4 / 83 34.0× 4.71e-6 1.94e-4 ✓ sig.
DNA replication
RNASEH2A, RNASEH2B, RNASEH2C
 KEGG 3 / 36 58.9× 1.63e-5 5.33e-4 ✓ sig.
RIG-I-like receptor signaling pathway
ADAR, IFIH1, STING1
 KEGG 3 / 72 29.4× 1.32e-4 2.90e-3 ✓ sig.
IRF3-mediated induction of type I IFN
TREX1, STING1
 Reactome 2 / 13 109× 1.46e-4 3.12e-3 ✓ sig.
Ovarian tumor domain proteases
IFIH1, PTEN
 Reactome 2 / 38 37.2× 1.29e-3 1.70e-2 ✓ sig.
Regulation by TREX1
TREX1
 Reactome 1 / 1 706× 1.42e-3 1.84e-2 ✓ sig.
Nucleobase catabolism
SAMHD1
 Reactome 1 / 1 706× 1.42e-3 1.84e-2 ✓ sig.
PTEN Loss of Function in Cancer
PTEN
 Reactome 1 / 1 706× 1.42e-3 1.84e-2 ✓ sig.
C6 deamination of adenosine
ADAR
 Reactome 1 / 2 353× 2.83e-3 3.03e-2 ✓ sig.
Formation of editosomes by ADAR proteins
ADAR
 Reactome 1 / 2 353× 2.83e-3 3.03e-2 ✓ sig.
Interferon alpha/beta signaling
ADAR, SAMHD1
 Reactome 2 / 67 21.1× 3.95e-3 3.85e-2 ✓ sig.
STAT6-mediated induction of chemokines
STING1
 Reactome 1 / 3 235× 4.24e-3 4.04e-2 ✓ sig.
Coronavirus disease - COVID-19
ADAR, IFIH1, STING1
 KEGG 3 / 238 8.9× 4.25e-3 4.05e-2 ✓ sig.
STING mediated induction of host immune responses
STING1
 Reactome 1 / 5 141× 7.06e-3 5.68e-2
Defective LFNG causes SCDO3
NOTCH3
 Reactome 1 / 5 141× 7.06e-3 5.68e-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 / 30 147× 1.27e-8 2.09e-6 ✓ sig.
negative regulation of type I interferon-mediated signaling pathway
ADAR, SAMHD1, TREX1
 GO:0060339 3 / 23 143× 1.10e-6 9.11e-5 ✓ sig.
defense response to virus
ADAR, IFIH1, SAMHD1, TREX1, STING1
 GO:0051607 5 / 247 22.3× 2.11e-6 1.55e-4 ✓ sig.
RNA catabolic process
RNASEH2A, RNASEH2B, RNASEH2C
 GO:0006401 3 / 37 89.1× 4.77e-6 2.97e-4 ✓ sig.
nucleobase-containing compound metabolic process
RNASEH2B, ATRIP, DGUOK
 GO:0006139 3 / 61 54.1× 2.18e-5 9.92e-4 ✓ sig.
regulation of metabolic process
TREX1, STING1
 GO:0019222 2 / 10 220× 3.49e-5 1.42e-3 ✓ sig.
cellular response to exogenous dsRNA
IFIH1, STING1
 GO:0071360 2 / 16 137× 9.28e-5 2.97e-3 ✓ sig.
innate immune response
ADAR, IFIH1, SAMHD1, TREX1, STING1
 GO:0045087 5 / 605 9.1× 1.57e-4 4.36e-3 ✓ sig.
DNA replication
RNASEH2A, SAMHD1, TREX1
 GO:0006260 3 / 131 25.2× 2.13e-4 5.45e-3 ✓ sig.
protein complex oligomerization
IFIH1, STING1
 GO:0051259 2 / 27 81.4× 2.70e-4 6.43e-3 ✓ sig.
cGAS/STING signaling pathway
TREX1, STING1
 GO:0140896 2 / 29 75.8× 3.12e-4 7.16e-3 ✓ sig.
cellular response to interferon-beta
TREX1, STING1
 GO:0035458 2 / 29 75.8× 3.12e-4 7.16e-3 ✓ sig.
regulation of innate immune response
SAMHD1, TREX1
 GO:0045088 2 / 32 68.7× 3.80e-4 8.17e-3 ✓ sig.
cytoplasmic pattern recognition receptor signaling pathway
IFIH1, STING1
 GO:0002753 2 / 33 66.6× 4.05e-4 8.55e-3 ✓ sig.
positive regulation of interferon-beta production
IFIH1, STING1
 GO:0032728 2 / 41 53.6× 6.26e-4 1.15e-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 4.02e-13 ✓ sig.
Chilblain lupus Chilblain lupus erythematosus 0.500 3 1.64e-11 1.77e-10 ✓ sig.
Chilblain lupus erythematosus Retinal vasculopathy with cerebral leukodystrophy 0.286 2 2.53e-7 1.65e-6 ✓ sig.
Cadasil Retinal vasculopathy with cerebral leukodystrophy 0.250 2 3.80e-7 2.39e-6 ✓ sig.
Aicardi goutieres syndrome Chilblain lupus 0.200 2 7.08e-7 4.27e-6 ✓ sig.
Cadasil Chilblain lupus erythematosus 0.200 2 1.26e-6 7.29e-6 ✓ sig.
Aicardi goutieres syndrome Chilblain lupus erythematosus 0.167 2 2.36e-6 1.29e-5 ✓ sig.
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Type i interferonopathy 0.500 1 6.49e-5 2.33e-4 ✓ sig.
Retinal vasculopathy with cerebral leukodystrophy retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 0.250 1 1.95e-4 5.35e-4 ✓ sig.
Chilblain lupus Type i interferonopathy 0.250 1 1.95e-4 5.35e-4 ✓ sig.
Chilblain lupus retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 0.250 1 1.95e-4 5.35e-4 ✓ sig.
Retinal vasculopathy with cerebral leukodystrophy Type i interferonopathy 0.250 1 1.95e-4 5.35e-4 ✓ sig.
Chilblain lupus erythematosus retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 0.167 1 3.25e-4 7.71e-4 ✓ sig.
Chilblain lupus erythematosus Type i interferonopathy 0.167 1 3.25e-4 7.71e-4 ✓ sig.
Chilblain lupus Deoxyguanosine kinase deficiency 0.200 1 3.90e-4 8.67e-4 ✓ sig.
Cadasil retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 0.143 1 3.90e-4 8.67e-4 ✓ sig.
Cadasil Type i interferonopathy 0.143 1 3.90e-4 8.67e-4 ✓ sig.
Deoxyguanosine kinase deficiency Interferonopathy 0.167 1 5.19e-4 1.06e-3 ✓ sig.
Aicardi goutieres syndrome Type i interferonopathy 0.111 1 5.20e-4 1.06e-3 ✓ sig.
Chilblain lupus erythematosus Deoxyguanosine kinase deficiency 0.143 1 6.49e-4 1.24e-3 ✓ sig.
Chilblain lupus Interferonopathy 0.143 1 7.79e-4 1.41e-3 ✓ sig.
Aicardi goutieres syndrome Deoxyguanosine kinase deficiency 0.100 1 1.04e-3 1.74e-3 ✓ sig.
Chilblain lupus erythematosus Interferonopathy 0.111 1 1.30e-3 2.06e-3 ✓ sig.