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 113

12 diseases · 32 shared-gene connections
12 Diseases
14 Unique genes
0.302 Avg. similarity score
Retinal vasculopathy with cerebral leukodystrophy Most-connected disease (8 links)
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Disease Searched: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 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 ⇵
Retinal vasculopathy with cerebral leukodystrophy 8 8 3
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 8 8 1
Type i interferonopathy 8 8 1
Aicardi-goutieres syndrome 1, dominant and recessive 6 6 1
Cerebroretinal vasculopathy 6 6 1
Chilblain lupus erythematosus 6 6 5
Hereditary endotheliopathy, retinopathy, nephropathy and stroke 6 6 1
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 5 5 6
Nephropathy 5 5 3
Hereditary breast carcinoma 4 4 3
FANCM Fanconi-like genomic instability disorder 1 1 1
Sting-associated vasculopathy, infantile-onset 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
TREX1 9 / 12 Aicardi-goutieres syndrome 1, dominant and recessive, Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebroretinal vasculopathy, Chilblain lupus erythematosus and 5 more
ATRIP 4 / 12 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Chilblain lupus erythematosus, Hereditary breast carcinoma, Retinal vasculopathy with cerebral leukodystrophy
FANCM 2 / 12 FANCM Fanconi-like genomic instability disorder, Hereditary breast carcinoma
STING1 2 / 12 Chilblain lupus erythematosus, Sting-associated vasculopathy, infantile-onset
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 ⇵
IRF3-mediated induction of type I IFN
TREX1, STING1
 Reactome 2 / 13 132× 9.77e-5 1.86e-3 ✓ sig.
Cytosolic DNA-sensing pathway
TREX1, SAMHD1, STING1
 KEGG 3 / 83 31.0× 1.10e-4 2.04e-3 ✓ sig.
Fanconi Anemia Pathway
ATRIP, FANCM
 Reactome 2 / 40 42.9× 9.60e-4 1.10e-2 ✓ sig.
Regulation by TREX1
TREX1
 Reactome 1 / 1 858× 1.17e-3 1.27e-2 ✓ sig.
Nucleobase catabolism
SAMHD1
 Reactome 1 / 1 858× 1.17e-3 1.27e-2 ✓ sig.
PTEN Loss of Function in Cancer
PTEN
 Reactome 1 / 1 858× 1.17e-3 1.27e-2 ✓ sig.
Fanconi anemia pathway
ATRIP, FANCM
 KEGG 2 / 54 31.8× 1.74e-3 1.73e-2 ✓ sig.
STAT6-mediated induction of chemokines
STING1
 Reactome 1 / 3 286× 3.49e-3 2.83e-2 ✓ sig.
STING mediated induction of host immune responses
STING1
 Reactome 1 / 5 172× 5.82e-3 4.03e-2 ✓ sig.
Defective LFNG causes SCDO3
NOTCH3
 Reactome 1 / 5 172× 5.82e-3 4.03e-2 ✓ sig.
Pre-NOTCH Processing in Golgi
NOTCH3
 Reactome 1 / 6 143× 6.98e-3 4.53e-2 ✓ sig.
Ligand-receptor interactions
GAS1
 Reactome 1 / 7 123× 8.13e-3 5.01e-2
Negative regulation of the PI3K/AKT network
PTEN
 Reactome 1 / 8 107× 9.29e-3 5.43e-2
Noncanonical activation of NOTCH3
NOTCH3
 Reactome 1 / 8 107× 9.29e-3 5.43e-2
Regulation of PTEN mRNA translation
PTEN
 Reactome 1 / 9 95.3× 1.04e-2 5.84e-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 metabolic process
TREX1, STING1
 GO:0019222 2 / 10 267× 2.34e-5 1.04e-3 ✓ sig.
regulation of inflammatory response
TREX1, STING1, MCPH1
 GO:0050727 3 / 106 37.8× 6.17e-5 2.16e-3 ✓ sig.
negative regulation of type I interferon-mediated signaling pathway
TREX1, SAMHD1
 GO:0060339 2 / 23 116× 1.31e-4 3.74e-3 ✓ sig.
cGAS/STING signaling pathway
TREX1, STING1
 GO:0140896 2 / 29 92.1× 2.09e-4 5.24e-3 ✓ sig.
cellular response to interferon-beta
TREX1, STING1
 GO:0035458 2 / 29 92.1× 2.09e-4 5.24e-3 ✓ sig.
DNA repair
ATRIP, TREX1, SAMHD1, FANCM
 GO:0006281 4 / 420 12.7× 2.11e-4 5.27e-3 ✓ sig.
regulation of innate immune response
TREX1, SAMHD1
 GO:0045088 2 / 32 83.4× 2.55e-4 6.04e-3 ✓ sig.
DNA damage checkpoint signaling
ATRIP, TREX1
 GO:0000077 2 / 47 56.8× 5.53e-4 1.01e-2 ✓ sig.
DNA damage response
ATRIP, TREX1, SAMHD1, FANCM
 GO:0006974 4 / 577 9.3× 7.03e-4 1.19e-2 ✓ sig.
defense response to virus
TREX1, SAMHD1, STING1
 GO:0051607 3 / 247 16.2× 7.46e-4 1.23e-2 ✓ sig.
establishment of epithelial cell apical/basal polarity involved in camera-type eye morphogenesis
FAT1
 GO:0003412 1 / 1 1,335× 7.49e-4 1.23e-2 ✓ sig.
negative regulation of cell communication
PTEN
 GO:0010648 1 / 1 1,335× 7.49e-4 1.23e-2 ✓ sig.
negative regulation of synaptic vesicle clustering
PTEN
 GO:2000808 1 / 1 1,335× 7.49e-4 1.23e-2 ✓ sig.
immune response in brain or nervous system
TREX1
 GO:0002383 1 / 1 1,335× 7.49e-4 1.23e-2 ✓ sig.
immune complex formation
TREX1
 GO:0097281 1 / 1 1,335× 7.49e-4 1.23e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Chilblain lupus erythematosus Retinal vasculopathy with cerebral leukodystrophy 0.286 2 2.50e-7 1.65e-6 ✓ sig.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Retinal vasculopathy with cerebral leukodystrophy 0.250 2 3.75e-7 2.42e-6 ✓ sig.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Chilblain lupus erythematosus 0.200 2 1.25e-6 7.51e-6 ✓ sig.
Cerebroretinal vasculopathy Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Hereditary endotheliopathy, retinopathy, nephropathy and stroke Type i interferonopathy 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Hereditary endotheliopathy, retinopathy, nephropathy and stroke Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Cerebroretinal vasculopathy Hereditary endotheliopathy, retinopathy, nephropathy and stroke 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Cerebroretinal vasculopathy Type i interferonopathy 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Type i interferonopathy 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Aicardi-goutieres syndrome 1, dominant and recessive Type i interferonopathy 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Aicardi-goutieres syndrome 1, dominant and recessive Hereditary endotheliopathy, retinopathy, nephropathy and stroke 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Aicardi-goutieres syndrome 1, dominant and recessive Cerebroretinal vasculopathy 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Aicardi-goutieres syndrome 1, dominant and recessive Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Retinal vasculopathy with cerebral leukodystrophy Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Retinal vasculopathy with cerebral leukodystrophy Type i interferonopathy 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Hereditary endotheliopathy, retinopathy, nephropathy and stroke Nephropathy 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Cerebroretinal vasculopathy Nephropathy 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Aicardi-goutieres syndrome 1, dominant and recessive Nephropathy 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Nephropathy Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Nephropathy Type i interferonopathy 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Hereditary endotheliopathy, retinopathy, nephropathy and stroke Retinal vasculopathy with cerebral leukodystrophy 0.250 1 1.94e-4 4.41e-4 ✓ sig.
FANCM Fanconi-like genomic instability disorder Hereditary breast carcinoma 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Cerebroretinal vasculopathy Retinal vasculopathy with cerebral leukodystrophy 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Aicardi-goutieres syndrome 1, dominant and recessive Retinal vasculopathy with cerebral leukodystrophy 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Chilblain lupus erythematosus Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 0.167 1 3.23e-4 6.41e-4 ✓ sig.
Chilblain lupus erythematosus Type i interferonopathy 0.167 1 3.23e-4 6.41e-4 ✓ sig.
Chilblain lupus erythematosus Sting-associated vasculopathy, infantile-onset 0.167 1 3.23e-4 6.41e-4 ✓ sig.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 0.143 1 3.87e-4 7.33e-4 ✓ sig.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Type i interferonopathy 0.143 1 3.87e-4 7.33e-4 ✓ sig.
Hereditary breast carcinoma Retinal vasculopathy with cerebral leukodystrophy 0.167 1 5.81e-4 1.00e-3 ✓ sig.
Chilblain lupus erythematosus Hereditary breast carcinoma 0.125 1 9.68e-4 1.50e-3 ✓ sig.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Hereditary breast carcinoma 0.111 1 1.16e-3 1.73e-3 ✓ sig.