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 115

11 diseases · 28 shared-gene connections
11 Diseases
8 Unique genes
0.336 Avg. similarity score
ACTB-associated syndromic thrombocytopenia Most-connected disease (7 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 ⇵
ACTB-associated syndromic thrombocytopenia 7 7 1
Becker nevus syndrome 7 7 1
Congenital smooth muscle hamartoma 7 7 1
Developmental malformations-deafness-dystonia syndrome 7 7 1
Dystonia-deafness syndrome 7 7 1
Aminoacylase deficiency 6 6 4
Baraitser-winter cerebrofrontofacial syndrome 6 6 2
Dysphoric mood 6 6 4
aminoacylase 1 deficiency 1 1 1
baraitser-winter syndrome 2 1 1 1
craniofrontonasal syndrome 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
ACTB 8 / 11 ACTB-associated syndromic thrombocytopenia, Aminoacylase deficiency, Baraitser-winter cerebrofrontofacial syndrome, Becker nevus syndrome and 4 more
ACTG1 2 / 11 Baraitser-winter cerebrofrontofacial syndrome, baraitser-winter syndrome 2
ACY1 2 / 11 aminoacylase 1 deficiency, Aminoacylase deficiency
EFNB1 2 / 11 craniofrontonasal syndrome, Dysphoric mood
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 ⇵
EPHB-mediated forward signaling
ACTB, ACTG1, EFNB1
 Reactome 3 / 39 115× 1.75e-6 7.87e-5 ✓ sig.
EPH-ephrin mediated repulsion of cells
ACTB, ACTG1, EFNB1
 Reactome 3 / 50 90.1× 3.75e-6 1.50e-4 ✓ sig.
Formation of annular gap junctions
ACTB, ACTG1
 Reactome 2 / 11 273× 2.13e-5 6.29e-4 ✓ sig.
Cell-extracellular matrix interactions
ACTB, ACTG1
 Reactome 2 / 12 250× 2.55e-5 7.28e-4 ✓ sig.
Gap junction degradation
ACTB, ACTG1
 Reactome 2 / 12 250× 2.55e-5 7.28e-4 ✓ sig.
Interaction between L1 and Ankyrins
ACTB, ACTG1
 Reactome 2 / 13 231× 3.02e-5 8.38e-4 ✓ sig.
Arginine biosynthesis
ABHD14A-ACY1, ACY1
 KEGG 2 / 23 131× 9.75e-5 2.21e-3 ✓ sig.
Hippo signaling pathway
ACTB, ACTG1, BMP5
 KEGG 3 / 157 28.7× 1.17e-4 2.54e-3 ✓ sig.
Adherens junctions interactions
ACTB, ACTG1
 Reactome 2 / 32 93.8× 1.91e-4 3.77e-3 ✓ sig.
RHO GTPases activate IQGAPs
ACTB, ACTG1
 Reactome 2 / 32 93.8× 1.91e-4 3.77e-3 ✓ sig.
2-Oxocarboxylic acid metabolism
ABHD14A-ACY1, ACY1
 KEGG 2 / 33 91.0× 2.03e-4 3.95e-3 ✓ sig.
RHO GTPases Activate WASPs and WAVEs
ACTB, ACTG1
 Reactome 2 / 36 83.4× 2.42e-4 4.54e-3 ✓ sig.
Signaling by high-kinase activity BRAF mutants
ACTB, ACTG1
 Reactome 2 / 36 83.4× 2.42e-4 4.54e-3 ✓ sig.
MAP2K and MAPK activation
ACTB, ACTG1
 Reactome 2 / 40 75.1× 2.99e-4 5.35e-3 ✓ sig.
Recycling pathway of L1
ACTB, ACTG1
 Reactome 2 / 40 75.1× 2.99e-4 5.35e-3 ✓ sig.

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 transepithelial transport
ACTB, ACTG1
 GO:0150111 2 / 4 1,168× 9.62e-7 8.05e-5 ✓ sig.
morphogenesis of a polarized epithelium
ACTB, ACTG1
 GO:0001738 2 / 6 779× 2.40e-6 1.67e-4 ✓ sig.
postsynaptic actin cytoskeleton organization
ACTB, ACTG1
 GO:0098974 2 / 20 234× 3.04e-5 1.23e-3 ✓ sig.
regulation of synaptic vesicle endocytosis
ACTB, ACTG1
 GO:1900242 2 / 20 234× 3.04e-5 1.23e-3 ✓ sig.
maintenance of blood-brain barrier
ACTB, ACTG1
 GO:0035633 2 / 34 137× 8.94e-5 2.78e-3 ✓ sig.
cell motility
ACTB, ACTG1
 GO:0048870 2 / 48 97.3× 1.79e-4 4.68e-3 ✓ sig.
platelet aggregation
ACTB, ACTG1
 GO:0070527 2 / 49 95.3× 1.87e-4 4.82e-3 ✓ sig.
tissue development
BMP5, DLL3
 GO:0009888 2 / 51 91.6× 2.02e-4 5.09e-3 ✓ sig.
positive regulation of norepinephrine uptake
ACTB
 GO:0051623 1 / 1 2,336× 4.28e-4 8.59e-3 ✓ sig.
cellular response to cytochalasin B
ACTB
 GO:0072749 1 / 1 2,336× 4.28e-4 8.59e-3 ✓ sig.
regulation of norepinephrine uptake
ACTB
 GO:0051621 1 / 2 1,168× 8.56e-4 1.36e-2 ✓ sig.
negative regulation of mononuclear cell migration
BMP5
 GO:0071676 1 / 2 1,168× 8.56e-4 1.36e-2 ✓ sig.
positive regulation of cell population proliferation
ACTB, ZNF335, BMP5
 GO:0008284 3 / 532 13.2× 1.15e-3 1.65e-2 ✓ sig.
axonogenesis
ACTB, ACTG1
 GO:0007409 2 / 125 37.4× 1.21e-3 1.70e-2 ✓ sig.
neural fold elevation formation
BMP5
 GO:0021502 1 / 3 779× 1.28e-3 1.75e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
ACTB-associated syndromic thrombocytopenia Congenital smooth muscle hamartoma 0.500 1 6.49e-5 2.34e-4 ✓ sig.
ACTB-associated syndromic thrombocytopenia Developmental malformations-deafness-dystonia syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
ACTB-associated syndromic thrombocytopenia Dystonia-deafness syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Developmental malformations-deafness-dystonia syndrome Dystonia-deafness syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Congenital smooth muscle hamartoma Dystonia-deafness syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Congenital smooth muscle hamartoma Developmental malformations-deafness-dystonia syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Becker nevus syndrome Dystonia-deafness syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Becker nevus syndrome Developmental malformations-deafness-dystonia syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Becker nevus syndrome Congenital smooth muscle hamartoma 0.500 1 6.49e-5 2.34e-4 ✓ sig.
ACTB-associated syndromic thrombocytopenia Becker nevus syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Baraitser-winter cerebrofrontofacial syndrome Dystonia-deafness syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Baraitser-winter cerebrofrontofacial syndrome baraitser-winter syndrome 2 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Baraitser-winter cerebrofrontofacial syndrome Developmental malformations-deafness-dystonia syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Baraitser-winter cerebrofrontofacial syndrome Congenital smooth muscle hamartoma 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Baraitser-winter cerebrofrontofacial syndrome Becker nevus syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
ACTB-associated syndromic thrombocytopenia Baraitser-winter cerebrofrontofacial syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
ACTB-associated syndromic thrombocytopenia Aminoacylase deficiency 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Aminoacylase deficiency Dystonia-deafness syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Aminoacylase deficiency Developmental malformations-deafness-dystonia syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Aminoacylase deficiency Congenital smooth muscle hamartoma 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Aminoacylase deficiency Becker nevus syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
aminoacylase 1 deficiency Aminoacylase deficiency 0.200 1 2.60e-4 6.40e-4 ✓ sig.
craniofrontonasal syndrome Dysphoric mood 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Becker nevus syndrome Dysphoric mood 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Congenital smooth muscle hamartoma Dysphoric mood 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Developmental malformations-deafness-dystonia syndrome Dysphoric mood 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Dysphoric mood Dystonia-deafness syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
ACTB-associated syndromic thrombocytopenia Dysphoric mood 0.200 1 2.60e-4 6.40e-4 ✓ sig.