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 67

14 diseases · 27 shared-gene connections
14 Diseases
35 Unique genes
0.168 Avg. similarity score
Platelet-type bleeding disorder Most-connected disease (10 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 ⇵
Platelet-type bleeding disorder 10 10 20
Macrothrombocytopenia 8 8 11
Thrombasthenia 6 6 4
Glanzmann thrombasthenia 5 5 2
Platelet disorder 5 5 13
Carotid artery thrombosis 4 4 6
platelet-type bleeding disorder 16 4 4 2
TPM4-related platelet disorder 3 3 1
bleeding disorder, platelet-type, 22 2 2 1
platelet-type bleeding disorder 15 2 2 1
platelet-type bleeding disorder 18 2 2 1
inherited blood coagulation disorder 1 1 1
macrothrombocytopenia, isolated, 1, autosomal dominant 1 1 1
nizon-isidor syndrome 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
ITGB3 7 / 14 Carotid artery thrombosis, Glanzmann thrombasthenia, Macrothrombocytopenia, Platelet disorder and 3 more
ITGA2B 6 / 14 Carotid artery thrombosis, Glanzmann thrombasthenia, Macrothrombocytopenia, Platelet-type bleeding disorder and 2 more
TPM4 4 / 14 Macrothrombocytopenia, Platelet disorder, Platelet-type bleeding disorder, TPM4-related platelet disorder
ACTN1 3 / 14 Macrothrombocytopenia, Platelet-type bleeding disorder, platelet-type bleeding disorder 15
EPHB2 3 / 14 bleeding disorder, platelet-type, 22, Platelet disorder, Platelet-type bleeding disorder
RASGRP2 3 / 14 Platelet-type bleeding disorder, platelet-type bleeding disorder 18, Thrombasthenia
APOLD1 2 / 14 inherited blood coagulation disorder, Platelet-type bleeding disorder
CD36 2 / 14 Platelet disorder, Platelet-type bleeding disorder
FLI1 2 / 14 Platelet disorder, Platelet-type bleeding disorder
GFI1B 2 / 14 Macrothrombocytopenia, Platelet-type bleeding disorder
GP6 2 / 14 Platelet disorder, Platelet-type bleeding disorder
ITGA2 2 / 14 Platelet-type bleeding disorder, Thrombasthenia
MED12L 2 / 14 nizon-isidor syndrome, Platelet-type bleeding disorder
STXBP2 2 / 14 Carotid artery thrombosis, Platelet disorder
TBXA2R 2 / 14 Platelet disorder, Platelet-type bleeding disorder
TUBB1 2 / 14 Macrothrombocytopenia, macrothrombocytopenia, isolated, 1, autosomal dominant
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 ⇵
Platelet activation
GP1BA, GP1BB, ITGA2B, ITGB3, GP6, TBXA2R, RASGRP2, P2RX1, P2RY12, PRKACG, FERMT3, PLA2G4A
 KEGG 14 / 126 38.1× 1.80e-19 1.32e-16 ✓ sig.
ECM-receptor interaction
GP1BA, GP1BB, ITGA2B, ITGB3, GP6, CD36, ITGA2
 KEGG 7 / 89 27.0× 5.49e-9 5.18e-7 ✓ sig.
Platelet degranulation
ACTN1, ITGA2B, ITGB3, TUBA4A, CD36, FERMT3, STXBP2
 Reactome 7 / 123 19.5× 5.28e-8 3.74e-6 ✓ sig.
Hematopoietic cell lineage
GP1BA, GP1BB, ITGA2B, ITGB3, CD36, ITGA2
 KEGG 6 / 100 20.6× 3.82e-7 2.13e-5 ✓ sig.
Intrinsic Pathway of Fibrin Clot Formation
GP1BA, GP1BB, KLKB1, SERPIND1
 Reactome 4 / 23 59.7× 5.14e-7 2.75e-5 ✓ sig.
Platelet Adhesion to exposed collagen
GP1BA, GP1BB, GP6
 Reactome 3 / 11 93.6× 3.68e-6 1.48e-4 ✓ sig.
Phagosome
ITGB3, TUBA4A, TUBA8, TUBB1, CD36, ITGA2
 KEGG 6 / 155 13.3× 5.00e-6 1.90e-4 ✓ sig.
Dilated cardiomyopathy
ITGA2B, ITGB3, TPM4, PRKACG, ITGA2
 KEGG 5 / 105 16.3× 1.22e-5 3.97e-4 ✓ sig.
COPI-independent Golgi-to-ER retrograde traffic
TUBA4A, TUBA8, TUBB1, PLA2G4A
 Reactome 4 / 51 26.9× 1.37e-5 4.36e-4 ✓ sig.
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
TUBA4A, TUBA8, TUBB1
 Reactome 3 / 18 57.2× 1.80e-5 5.47e-4 ✓ sig.
Cilium Assembly
TUBA4A, TUBA8, TUBB1
 Reactome 3 / 19 54.2× 2.13e-5 6.29e-4 ✓ sig.
Integrin signaling
ITGA2B, ITGB3, RASGRP2
 Reactome 3 / 23 44.8× 3.86e-5 1.03e-3 ✓ sig.
Carboxyterminal post-translational modifications of tubulin
TUBA4A, TUBA8, TUBB1
 Reactome 3 / 27 38.1× 6.32e-5 1.54e-3 ✓ sig.
Sealing of the nuclear envelope (NE) by ESCRT-III
TUBA4A, TUBA8, TUBB1
 Reactome 3 / 31 33.2× 9.64e-5 2.18e-3 ✓ sig.
RHO GTPases activate IQGAPs
TUBA4A, TUBA8, TUBB1
 Reactome 3 / 32 32.2× 1.06e-4 2.36e-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 ⇵
blood coagulation
GP1BA, GP1BB, ITGB3, GP6, P2RY12, CD36, KLKB1, SERPIND1, THBD, ITGA2
 GO:0007596 10 / 106 50.4× 3.64e-15 2.60e-12 ✓ sig.
hemostasis
GP1BA, GP1BB, GP6, P2RY12, FLI1, KLKB1, SERPIND1, THBD
 GO:0007599 8 / 55 77.7× 7.33e-14 4.12e-11 ✓ sig.
platelet activation
ACTN1, GP1BA, GP1BB, ITGB3, GP6, P2RX1, P2RY12
 GO:0030168 7 / 69 54.2× 4.24e-11 1.33e-8 ✓ sig.
platelet aggregation
ACTN1, ITGB3, TUBB1, GP6, P2RY12, FERMT3
 GO:0070527 6 / 49 65.4× 3.63e-10 9.04e-8 ✓ sig.
positive regulation of platelet activation
GP1BA, GP1BB, PLA2G4A
 GO:0010572 3 / 13 123× 1.70e-6 1.27e-4 ✓ sig.
positive regulation of leukocyte migration
ITGA2B, ITGB3, ITGA2
 GO:0002687 3 / 19 84.3× 5.71e-6 3.33e-4 ✓ sig.
megakaryocyte development
GP1BA, GP1BB, FLI1
 GO:0035855 3 / 23 69.6× 1.04e-5 5.37e-4 ✓ sig.
platelet formation
ACTN1, TPM4, TUBB1
 GO:0030220 3 / 24 66.7× 1.19e-5 5.95e-4 ✓ sig.
integrin-mediated signaling pathway
ITGA2B, ITGB3, FERMT3, ITGA2
 GO:0007229 4 / 100 21.4× 3.56e-5 1.39e-3 ✓ sig.
cell-matrix adhesion
ITGA2B, ITGB3, FERMT3, ITGA2
 GO:0007160 4 / 105 20.3× 4.31e-5 1.61e-3 ✓ sig.
collagen-activated signaling pathway
GP6, ITGA2
 GO:0038065 2 / 6 178× 5.09e-5 1.82e-3 ✓ sig.
positive regulation of monoatomic ion transport
P2RX1, P2RY12
 GO:0043270 2 / 7 153× 7.11e-5 2.35e-3 ✓ sig.
microtubule-based process
TUBA4A, TUBA8, TUBB1
 GO:0007017 3 / 46 34.8× 8.65e-5 2.71e-3 ✓ sig.
blood coagulation, intrinsic pathway
GP1BA, GP1BB
 GO:0007597 2 / 8 133× 9.48e-5 2.90e-3 ✓ sig.
regulation of blood coagulation
GP1BA, EPHB2
 GO:0030193 2 / 11 97.1× 1.85e-4 4.79e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Platelet disorder Platelet-type bleeding disorder 0.259 7 3.26e-18 5.99e-17 ✓ sig.
Macrothrombocytopenia Platelet-type bleeding disorder 0.185 5 9.89e-13 1.27e-11 ✓ sig.
Platelet-type bleeding disorder Thrombasthenia 0.190 4 2.07e-12 2.53e-11 ✓ sig.
Glanzmann thrombasthenia platelet-type bleeding disorder 16 0.667 2 8.44e-9 7.20e-8 ✓ sig.
platelet-type bleeding disorder 16 Thrombasthenia 0.400 2 5.06e-8 3.92e-7 ✓ sig.
Glanzmann thrombasthenia Thrombasthenia 0.400 2 5.06e-8 3.92e-7 ✓ sig.
Carotid artery thrombosis Glanzmann thrombasthenia 0.286 2 1.27e-7 9.20e-7 ✓ sig.
Carotid artery thrombosis platelet-type bleeding disorder 16 0.286 2 1.27e-7 9.20e-7 ✓ sig.
Glanzmann thrombasthenia Macrothrombocytopenia 0.167 2 4.64e-7 3.06e-6 ✓ sig.
Macrothrombocytopenia platelet-type bleeding disorder 16 0.167 2 4.64e-7 3.06e-6 ✓ sig.
Carotid artery thrombosis Thrombasthenia 0.222 2 7.59e-7 4.79e-6 ✓ sig.
Glanzmann thrombasthenia Platelet-type bleeding disorder 0.095 2 1.60e-6 9.62e-6 ✓ sig.
Macrothrombocytopenia Thrombasthenia 0.143 2 2.78e-6 1.59e-5 ✓ sig.
Carotid artery thrombosis Platelet disorder 0.111 2 9.85e-6 5.16e-5 ✓ sig.
Macrothrombocytopenia Platelet disorder 0.087 2 3.60e-5 1.75e-4 ✓ sig.
platelet-type bleeding disorder 18 Thrombasthenia 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Macrothrombocytopenia macrothrombocytopenia, isolated, 1, autosomal dominant 0.083 1 7.14e-4 1.31e-3 ✓ sig.
Macrothrombocytopenia platelet-type bleeding disorder 15 0.083 1 7.14e-4 1.31e-3 ✓ sig.
Macrothrombocytopenia TPM4-related platelet disorder 0.083 1 7.14e-4 1.31e-3 ✓ sig.
bleeding disorder, platelet-type, 22 Platelet disorder 0.071 1 8.44e-4 1.48e-3 ✓ sig.
Platelet disorder TPM4-related platelet disorder 0.071 1 8.44e-4 1.48e-3 ✓ sig.
Platelet-type bleeding disorder TPM4-related platelet disorder 0.048 1 1.30e-3 2.04e-3 ✓ sig.
nizon-isidor syndrome Platelet-type bleeding disorder 0.048 1 1.30e-3 2.04e-3 ✓ sig.
Platelet-type bleeding disorder platelet-type bleeding disorder 18 0.048 1 1.30e-3 2.04e-3 ✓ sig.
Platelet-type bleeding disorder platelet-type bleeding disorder 15 0.048 1 1.30e-3 2.04e-3 ✓ sig.
inherited blood coagulation disorder Platelet-type bleeding disorder 0.048 1 1.30e-3 2.04e-3 ✓ sig.
bleeding disorder, platelet-type, 22 Platelet-type bleeding disorder 0.048 1 1.30e-3 2.04e-3 ✓ sig.