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 65

14 diseases · 28 shared-gene connections
14 Diseases
162 Unique genes
0.144 Avg. similarity score
Macrothrombocytopenia Most-connected disease (7 links)
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Disease Searched: Macrothrombocytopenia, isolated, 1, autosomal dominant 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 ⇵
Macrothrombocytopenia 7 7 14
Thrombocytopenia 7 7 142
Platelet-type bleeding disorder 6 6 21
Platelet disorder 5 5 24
Thrombasthenia 5 5 4
Glanzmann thrombasthenia 4 4 2
Platelet-type bleeding disorder 16 4 4 2
Carotid artery thrombosis 3 3 6
Hemorrhagic disease 3 3 21
Macrothrombocytopenia, isolated, 1, autosomal dominant 3 3 1
Platelet-type bleeding disorder 15 3 3 1
Bleeding disorder, platelet-type, 22 2 2 1
Neurodevelopmental disorder with growth restriction, skeletal anomalies, cerebellar hypoplasia and hearing loss 2 2 1
Thrombocytopenia with anemia and myelofibrosis 2 2 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
ITGB3 8 / 14 Carotid artery thrombosis, Glanzmann thrombasthenia, Macrothrombocytopenia, Platelet disorder and 4 more
ITGA2B 7 / 14 Carotid artery thrombosis, Glanzmann thrombasthenia, Macrothrombocytopenia, Platelet-type bleeding disorder and 3 more
TPM4 5 / 14 Hemorrhagic disease, Macrothrombocytopenia, Platelet disorder, Platelet-type bleeding disorder and 1 more
ACTN1 4 / 14 Macrothrombocytopenia, Platelet-type bleeding disorder, Platelet-type bleeding disorder 15, Thrombocytopenia
TUBB1 4 / 14 Hemorrhagic disease, Macrothrombocytopenia, Macrothrombocytopenia, isolated, 1, autosomal dominant, Thrombocytopenia
EPHB2 3 / 14 Bleeding disorder, platelet-type, 22, Platelet disorder, Platelet-type bleeding disorder
FLI1 3 / 14 Platelet disorder, Platelet-type bleeding disorder, Thrombocytopenia
GFI1B 3 / 14 Macrothrombocytopenia, Platelet-type bleeding disorder, Thrombocytopenia
GP1BB 3 / 14 Macrothrombocytopenia, Platelet disorder, Thrombocytopenia
GP6 3 / 14 Platelet disorder, Platelet-type bleeding disorder, Thrombocytopenia
GTF3C5 3 / 14 Hemorrhagic disease, Neurodevelopmental disorder with growth restriction, skeletal anomalies, cerebellar hypoplasia and hearing loss, Thrombocytopenia
ITGA2 3 / 14 Platelet-type bleeding disorder, Thrombasthenia, Thrombocytopenia
MPIG6B 3 / 14 Platelet disorder, Thrombocytopenia, Thrombocytopenia with anemia and myelofibrosis
RASGRP2 3 / 14 Platelet-type bleeding disorder, Thrombasthenia, Thrombocytopenia
SLFN14 3 / 14 Platelet disorder, Platelet-type bleeding disorder, Thrombocytopenia
STXBP2 3 / 14 Carotid artery thrombosis, Platelet disorder, Thrombocytopenia
TBXA2R 3 / 14 Hemorrhagic disease, Platelet disorder, Platelet-type bleeding disorder
ABCG5 2 / 14 Platelet disorder, Thrombocytopenia
ABCG8 2 / 14 Platelet disorder, Thrombocytopenia
ACTB 2 / 14 Platelet disorder, Thrombocytopenia
ANKRD26 2 / 14 Platelet disorder, Thrombocytopenia
AP3D1 2 / 14 Platelet disorder, Thrombocytopenia
ARHGEF3 2 / 14 Hemorrhagic disease, Thrombocytopenia
BAK1 2 / 14 Hemorrhagic disease, Thrombocytopenia
CD36 2 / 14 Platelet disorder, Platelet-type bleeding disorder
CDKN2A 2 / 14 Hemorrhagic disease, Thrombocytopenia
F7 2 / 14 Hemorrhagic disease, Thrombocytopenia
FLNA 2 / 14 Macrothrombocytopenia, Thrombocytopenia
FYB1 2 / 14 Platelet disorder, Thrombocytopenia
GCSAML 2 / 14 Hemorrhagic disease, Thrombocytopenia
GNE 2 / 14 Platelet-type bleeding disorder, Thrombocytopenia
GP1BA 2 / 14 Macrothrombocytopenia, Thrombocytopenia
HBS1L 2 / 14 Hemorrhagic disease, Thrombocytopenia
JAK2 2 / 14 Hemorrhagic disease, Thrombocytopenia
JMJD1C 2 / 14 Hemorrhagic disease, Thrombocytopenia
KLKB1 2 / 14 Carotid artery thrombosis, Thrombocytopenia
MED12L 2 / 14 Platelet-type bleeding disorder, Thrombocytopenia
MYH9 2 / 14 Macrothrombocytopenia, Thrombocytopenia
P2RY12 2 / 14 Platelet-type bleeding disorder, Thrombocytopenia
PNPLA3 2 / 14 Hemorrhagic disease, Thrombocytopenia
RUNX1 2 / 14 Platelet disorder, Thrombocytopenia
SIRPA 2 / 14 Hemorrhagic disease, Thrombocytopenia
SRC 2 / 14 Platelet disorder, Thrombocytopenia
TBXAS1 2 / 14 Platelet-type bleeding disorder, Thrombocytopenia
THADA 2 / 14 Hemorrhagic disease, Thrombocytopenia
THBD 2 / 14 Carotid artery thrombosis, Thrombocytopenia
THPO 2 / 14 Hemorrhagic disease, Thrombocytopenia
ZNF474 2 / 14 Hemorrhagic disease, Thrombocytopenia
ZNF475 2 / 14 Hemorrhagic disease, Thrombocytopenia
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
ACTB, GP1BA, GP1BB, ITGA2B, ITGB3, GP6, TBXA2R, RASGRP2, P2RX1, P2RY12, PRKACG, FERMT3
 KEGG 28 / 126 16.5× 1.07e-26 2.28e-23 ✓ sig.
Platelet degranulation
ACTN1, ITGA2B, ITGB3, TUBA4A, CD36, FERMT3, STXBP2, SERPINA1, ALB, F13A1, FGA, FGB
 Reactome 22 / 123 13.3× 6.09e-19 3.84e-16 ✓ sig.
Complement and coagulation cascades
KLKB1, SERPIND1, THBD, SERPINA1, F7, F10, F11, F13A1, FGA, FGB, FGG, MBL2
 KEGG 17 / 88 14.3× 1.86e-15 6.09e-13 ✓ sig.
p130Cas linkage to MAPK signaling for integrins
ITGA2B, ITGB3, FGA, FGB, FGG, RAP1B, SRC, TLN1, VWF
 Reactome 9 / 15 44.5× 5.52e-14 1.37e-11 ✓ sig.
GRB2:SOS provides linkage to MAPK signaling for Integrins
ITGA2B, ITGB3, FGA, FGB, FGG, RAP1B, SRC, TLN1, VWF
 Reactome 9 / 15 44.5× 5.52e-14 1.37e-11 ✓ sig.
Common Pathway of Fibrin Clot Formation
SERPIND1, THBD, F10, F13A1, FGA, FGB, FGG, PF4, PROS1, SERPINC1
 Reactome 10 / 22 33.7× 8.48e-14 2.02e-11 ✓ sig.
Integrin signaling
ITGA2B, ITGB3, RASGRP2, FGA, FGB, FGG, RAP1B, SRC, TLN1, VWF
 Reactome 10 / 23 32.2× 1.48e-13 3.32e-11 ✓ sig.
Intrinsic Pathway of Fibrin Clot Formation
GP1BA, GP1BB, KLKB1, SERPIND1, F10, F11, GP9, PROS1, SERPINC1, VWF
 Reactome 10 / 23 32.2× 1.48e-13 3.32e-11 ✓ sig.
Signaling by moderate kinase activity BRAF mutants
ACTB, ITGA2B, ITGB3, JAK2, FGA, FGB, FGG, RAP1B, SRC, TLN1, VWF, MAP2K2
 Reactome 12 / 47 18.9× 8.36e-13 1.63e-10 ✓ sig.
Paradoxical activation of RAF signaling by kinase inactive BRAF
ACTB, ITGA2B, ITGB3, JAK2, FGA, FGB, FGG, RAP1B, SRC, TLN1, VWF, MAP2K2
 Reactome 12 / 47 18.9× 8.36e-13 1.63e-10 ✓ sig.
Signaling downstream of RAS mutants
ACTB, ITGA2B, ITGB3, JAK2, FGA, FGB, FGG, RAP1B, SRC, TLN1, VWF, MAP2K2
 Reactome 12 / 47 18.9× 8.36e-13 1.63e-10 ✓ sig.
Signaling by high-kinase activity BRAF mutants
ACTB, ITGA2B, ITGB3, FGA, FGB, FGG, RAP1B, SRC, TLN1, VWF, MAP2K2
 Reactome 11 / 36 22.7× 8.58e-13 1.66e-10 ✓ sig.
MAP2K and MAPK activation
ACTB, ITGA2B, ITGB3, FGA, FGB, FGG, RAP1B, SRC, TLN1, VWF, MAP2K2
 Reactome 11 / 40 20.4× 3.15e-12 5.34e-10 ✓ sig.
Signaling by BRAF and RAF fusions
ACTB, ITGA2B, ITGB3, JAK2, AP3B1, FGA, FGB, FGG, RAP1B, SRC, TLN1, VWF
 Reactome 13 / 67 14.4× 4.07e-12 6.78e-10 ✓ sig.
Hematopoietic cell lineage
GP1BA, GP1BB, ITGA2B, ITGB3, CD36, THPO, ITGA2, CSF2, CSF3, EPO, GP9, IL1B
 KEGG 14 / 100 10.4× 6.08e-11 7.54e-9 ✓ 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, JMJD1C, SERPINA1, F7
 GO:0007596 34 / 106 37.0× 7.53e-45 1.19e-40 ✓ sig.
hemostasis
GP1BA, GP1BB, GP6, P2RY12, FLI1, KLKB1, SERPIND1, THBD, SERPINA1, F7, ADAMTS13, F10
 GO:0007599 24 / 55 50.3× 1.09e-35 9.06e-32 ✓ sig.
platelet aggregation
ACTB, ACTN1, ITGB3, TUBB1, GP6, P2RY12, FERMT3, GNAS, FGA, FGB, FGG, FLNA
 GO:0070527 15 / 49 35.3× 7.41e-20 1.16e-16 ✓ sig.
platelet formation
ACTN1, TPM4, TUBB1, GATA1, MPIG6B, MPL, MYH9, NBEAL2, PTPN11, PTPRJ, WDR1
 GO:0030220 11 / 24 52.9× 3.34e-17 3.53e-14 ✓ sig.
platelet activation
ACTN1, GP1BA, GP1BB, ITGB3, GP6, P2RX1, P2RY12, ADAMTS13, FGA, FGB, FGG, PF4
 GO:0030168 14 / 69 23.4× 7.84e-16 6.53e-13 ✓ sig.
megakaryocyte development
GP1BA, GP1BB, FLI1, THPO, FLNA, GP9, MPIG6B, PTPN11, VPS33B, MEIS1
 GO:0035855 10 / 23 50.2× 1.88e-15 1.47e-12 ✓ sig.
fibrinolysis
GP1BA, KLKB1, FGA, FGB, FGG, PLAT, PLG, PROS1
 GO:0042730 8 / 19 48.6× 1.87e-12 8.47e-10 ✓ sig.
positive regulation of platelet activation
GP1BA, GP1BB, PLA2G4A, JAK2, FLNA, GP9, PTPRJ
 GO:0010572 7 / 13 62.1× 5.31e-12 2.14e-9 ✓ sig.
integrin-mediated signaling pathway
ITGA2B, ITGB3, FERMT3, ITGA2, ADAMTS13, FYB1, MPIG6B, MYH9, PTPN11, SRC, TLN1, CDC42
 GO:0007229 12 / 100 13.8× 6.50e-11 2.08e-8 ✓ sig.
plasminogen activation
KLKB1, F11, FGA, FGB, FGG, PLAT
 GO:0031639 6 / 12 57.7× 3.42e-10 9.20e-8 ✓ sig.
positive regulation of heterotypic cell-cell adhesion
FGA, FGB, FGG, IL10, IL1B, TNF
 GO:0034116 6 / 13 53.2× 6.31e-10 1.57e-7 ✓ sig.
blood coagulation, fibrin clot formation
ITGB3, F13A1, FGA, FGB, FGG
 GO:0072378 5 / 9 64.1× 5.64e-9 1.07e-6 ✓ sig.
cellular response to lipopolysaccharide
TBXA2R, EPHB2, CD36, JAK2, ADAMTS13, CCL2, CSF2, CSF3, GATA1, IL10, IL1B, PF4
 GO:0071222 13 / 187 8.0× 9.39e-9 1.67e-6 ✓ sig.
positive regulation of ERK1 and ERK2 cascade
ITGB3, CD36, THPO, EPO, FGA, FGB, FGG, IL1B, PTPN11, RAP1B, SRC, TNF
 GO:0070374 12 / 201 6.9× 1.90e-7 2.16e-5 ✓ sig.
blood coagulation, intrinsic pathway
GP1BA, GP1BB, FLNA, GP9
 GO:0007597 4 / 8 57.7× 3.71e-7 3.78e-5 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Hemorrhagic disease Thrombocytopenia 0.116 17 4.94e-32 1.01e-30 ✓ sig.
Platelet disorder Thrombocytopenia 0.106 16 7.22e-28 1.35e-26 ✓ sig.
Platelet-type bleeding disorder Thrombocytopenia 0.093 14 1.69e-24 2.86e-23 ✓ sig.
Platelet disorder Platelet-type bleeding disorder 0.211 8 1.80e-18 2.51e-17 ✓ sig.
Platelet-type bleeding disorder Thrombasthenia 0.182 4 2.50e-12 2.61e-11 ✓ sig.
Macrothrombocytopenia Platelet-type bleeding disorder 0.161 5 5.45e-12 5.60e-11 ✓ sig.
Glanzmann thrombasthenia Platelet-type bleeding disorder 16 0.667 2 8.34e-9 6.60e-8 ✓ sig.
Glanzmann thrombasthenia Thrombasthenia 0.400 2 5.00e-8 3.63e-7 ✓ sig.
Platelet-type bleeding disorder 16 Thrombasthenia 0.400 2 5.00e-8 3.63e-7 ✓ sig.
Carotid artery thrombosis Platelet-type bleeding disorder 16 0.286 2 1.25e-7 8.63e-7 ✓ sig.
Carotid artery thrombosis Glanzmann thrombasthenia 0.286 2 1.25e-7 8.63e-7 ✓ sig.
Carotid artery thrombosis Thrombasthenia 0.222 2 7.50e-7 4.63e-6 ✓ sig.
Glanzmann thrombasthenia Macrothrombocytopenia 0.133 2 7.59e-7 4.67e-6 ✓ sig.
Macrothrombocytopenia Platelet-type bleeding disorder 16 0.133 2 7.59e-7 4.67e-6 ✓ sig.
Macrothrombocytopenia Platelet disorder 0.083 3 1.18e-6 7.10e-6 ✓ sig.
Macrothrombocytopenia Thrombasthenia 0.118 2 4.55e-6 2.54e-5 ✓ sig.
Macrothrombocytopenia Macrothrombocytopenia, isolated, 1, autosomal dominant 0.067 1 9.04e-4 1.41e-3 ✓ sig.
Macrothrombocytopenia Platelet-type bleeding disorder 15 0.067 1 9.04e-4 1.41e-3 ✓ sig.
Hemorrhagic disease Neurodevelopmental disorder with growth restriction, skeletal anomalies, cerebellar hypoplasia and hearing loss 0.045 1 1.36e-3 1.97e-3 ✓ sig.
Bleeding disorder, platelet-type, 22 Platelet-type bleeding disorder 0.045 1 1.36e-3 1.97e-3 ✓ sig.
Hemorrhagic disease Macrothrombocytopenia, isolated, 1, autosomal dominant 0.045 1 1.36e-3 1.97e-3 ✓ sig.
Platelet-type bleeding disorder Platelet-type bleeding disorder 15 0.045 1 1.36e-3 1.97e-3 ✓ sig.
Platelet disorder Thrombocytopenia with anemia and myelofibrosis 0.040 1 1.55e-3 2.19e-3 ✓ sig.
Bleeding disorder, platelet-type, 22 Platelet disorder 0.040 1 1.55e-3 2.19e-3 ✓ sig.
Thrombocytopenia Thrombocytopenia with anemia and myelofibrosis 0.007 1 9.17e-3 1.03e-2 ✓ sig.
Platelet-type bleeding disorder 15 Thrombocytopenia 0.007 1 9.17e-3 1.03e-2 ✓ sig.
Neurodevelopmental disorder with growth restriction, skeletal anomalies, cerebellar hypoplasia and hearing loss Thrombocytopenia 0.007 1 9.17e-3 1.03e-2 ✓ sig.
Macrothrombocytopenia, isolated, 1, autosomal dominant Thrombocytopenia 0.007 1 9.17e-3 1.03e-2 ✓ sig.