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 64

14 diseases · 37 shared-gene connections
14 Diseases
82 Unique genes
0.261 Avg. similarity score
Ruptured abdominal aortic aneurysm Most-connected disease (11 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 ⇵
Ruptured abdominal aortic aneurysm 11 11 8
Ruptured aortic aneurysm 10 10 8
Ruptured thoracic aortic aneurysm 10 10 8
Thoracoabdominal aortic aneurysm 8 8 8
Aortic dissection 5 5 18
Thoracic aortic aneurysm 5 5 18
Cutaneous polyarteritis nodosa 4 4 1
Shprintzen-goldberg syndrome 4 4 3
Varicose veins 4 4 7
cutis laxa, autosomal recessive, type 1B 4 4 1
Aortic rupture 3 3 5
Arterial tortuosity syndrome 3 3 3
Atypical femoral fracture 2 2 37
arterial tortuosity-bone fragility syndrome 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
FBN1 8 / 14 Aortic dissection, Aortic rupture, Ruptured abdominal aortic aneurysm, Ruptured aortic aneurysm and 4 more
EFEMP2 7 / 14 Arterial tortuosity syndrome, cutis laxa, autosomal recessive, type 1B, Ruptured abdominal aortic aneurysm, Ruptured aortic aneurysm and 3 more
MMP9 6 / 14 Aortic rupture, Ruptured abdominal aortic aneurysm, Ruptured aortic aneurysm, Ruptured thoracic aortic aneurysm and 2 more
SMAD3 6 / 14 Aortic dissection, Cutaneous polyarteritis nodosa, Ruptured abdominal aortic aneurysm, Ruptured aortic aneurysm and 2 more
AGT 5 / 14 Aortic dissection, Ruptured abdominal aortic aneurysm, Ruptured aortic aneurysm, Ruptured thoracic aortic aneurysm and 1 more
ELN 5 / 14 Ruptured abdominal aortic aneurysm, Ruptured aortic aneurysm, Ruptured thoracic aortic aneurysm, Thoracoabdominal aortic aneurysm and 1 more
SKI 5 / 14 Ruptured abdominal aortic aneurysm, Ruptured aortic aneurysm, Ruptured thoracic aortic aneurysm, Shprintzen-goldberg syndrome and 1 more
TGFBR2 5 / 14 Aortic dissection, Ruptured abdominal aortic aneurysm, Ruptured aortic aneurysm, Ruptured thoracic aortic aneurysm and 1 more
CNTN4 2 / 14 Atypical femoral fracture, Thoracic aortic aneurysm
EMILIN1 2 / 14 Arterial tortuosity syndrome, arterial tortuosity-bone fragility syndrome
IL18R1 2 / 14 Aortic dissection, Atypical femoral fracture
SLC9A4 2 / 14 Aortic dissection, Atypical femoral fracture
SMAD6 2 / 14 Atypical femoral fracture, Thoracic aortic aneurysm
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 ⇵
Relaxin signaling pathway
COL1A1, TGFBR1, TGFBR2, MMP2, MMP9, COL3A1, GNG2, MMP1
 KEGG 8 / 130 9.0× 2.76e-6 1.16e-4 ✓ sig.
AGE-RAGE signaling pathway in diabetic complications
AGT, COL1A1, SMAD3, TGFBR1, TGFBR2, MMP2, COL3A1
 KEGG 7 / 101 10.2× 5.47e-6 2.04e-4 ✓ sig.
SMAD2/3 Phosphorylation Motif Mutants in Cancer
SMAD3, TGFBR1, TGFBR2
 Reactome 3 / 6 73.2× 6.05e-6 2.20e-4 ✓ sig.
TGFBR1 KD Mutants in Cancer
SMAD3, TGFBR1, TGFBR2
 Reactome 3 / 6 73.2× 6.05e-6 2.20e-4 ✓ sig.
Collagen degradation
COL1A1, MMP2, MMP9, COL3A1, MMP1
 Reactome 5 / 52 14.1× 2.65e-5 7.51e-4 ✓ sig.
TGF-beta receptor signaling activates SMADs
SMAD3, TGFBR1, TGFBR2
 Reactome 3 / 12 36.6× 6.46e-5 1.57e-3 ✓ sig.
Activation of Matrix Metalloproteinases
MMP2, MMP9, TIMP1, MMP1
 Reactome 4 / 33 17.8× 7.10e-5 1.70e-3 ✓ sig.
Diabetic cardiomyopathy
AGT, COL1A1, SMAD3, TGFBR1, TGFBR2, MMP2, MMP9, COL3A1
 KEGG 8 / 205 5.7× 7.59e-5 1.79e-3 ✓ sig.
TGF-beta signaling pathway
SMAD3, TGFBR1, TGFBR2, FBN1, SMAD6, SKI
 KEGG 6 / 108 8.1× 9.25e-5 2.11e-3 ✓ sig.
Degradation of the extracellular matrix
FBN1, MMP2, MMP9, ELN, MMP1
 Reactome 5 / 70 10.5× 1.12e-4 2.46e-3 ✓ sig.
Molecules associated with elastic fibres
FBN1, EFEMP2, EMILIN1, ELN
 Reactome 4 / 38 15.4× 1.25e-4 2.68e-3 ✓ sig.
TGFBR2 Kinase Domain Mutants in Cancer
TGFBR1, TGFBR2
 Reactome 2 / 3 97.6× 1.38e-4 2.90e-3 ✓ sig.
Downregulation of TGF-beta receptor signaling
SMAD3, TGFBR1, TGFBR2
 Reactome 3 / 16 27.5× 1.61e-4 3.29e-3 ✓ sig.
Integrin cell surface interactions
COL1A1, FBN1, COL3A1, COL16A1, TNC
 Reactome 5 / 81 9.0× 2.24e-4 4.28e-3 ✓ sig.
Elastic fibre formation
FBN1, LOX, ELN
 Reactome 3 / 18 24.4× 2.32e-4 4.40e-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 ⇵
elastic fiber assembly
ATP7A, EFEMP2, EMILIN1, COL3A1, LOX
 GO:0048251 5 / 11 104× 6.51e-10 1.54e-7 ✓ sig.
blood vessel development
COL1A1, TGFBR2, ATP7A, COL3A1, LOX, TBX1, TCF7L2
 GO:0001568 7 / 70 22.8× 2.32e-8 3.54e-6 ✓ sig.
positive regulation of extracellular matrix assembly
AGT, SMAD3, TGFBR1, EMILIN1
 GO:1901203 4 / 9 101× 4.27e-8 5.92e-6 ✓ sig.
cellular response to UV-A
MMP2, MMP9, TIMP1, MMP1
 GO:0071492 4 / 11 82.9× 1.11e-7 1.32e-5 ✓ sig.
positive regulation of epithelial to mesenchymal transition
AGT, COL1A1, SMAD3, TGFBR1, TGFBR2, TCF7L2
 GO:0010718 6 / 59 23.2× 2.22e-7 2.37e-5 ✓ sig.
collagen fibril organization
COL1A1, TGFBR1, ATP7A, COL3A1, LOX, DPT
 GO:0030199 6 / 65 21.0× 3.98e-7 3.86e-5 ✓ sig.
trophoblast cell migration
SMAD3, TGFBR1, MMP2
 GO:0061450 3 / 7 97.7× 2.81e-6 1.89e-4 ✓ sig.
extracellular matrix organization
ATP7A, MMP2, MMP9, EMILIN1, COL3A1, ELN, MMP1
 GO:0030198 7 / 145 11.0× 3.42e-6 2.22e-4 ✓ sig.
embryonic cranial skeleton morphogenesis
SMAD3, TGFBR1, TGFBR2, TBX1
 GO:0048701 4 / 31 29.4× 9.90e-6 5.18e-4 ✓ sig.
face morphogenesis
COL1A1, MMP2, SKI, TBX1
 GO:0060325 4 / 33 27.6× 1.28e-5 6.33e-4 ✓ sig.
aorta development
EFEMP2, SMAD6, COL3A1, LOX
 GO:0035904 4 / 33 27.6× 1.28e-5 6.33e-4 ✓ sig.
response to angiotensin
AGT, SMAD3, COL3A1
 GO:1990776 3 / 12 57.0× 1.74e-5 8.04e-4 ✓ sig.
aortic valve morphogenesis
TGFBR2, EMILIN1, SMAD6, ELN
 GO:0003180 4 / 37 24.6× 2.04e-5 9.11e-4 ✓ sig.
heart development
TGFBR1, TGFBR2, FBN1, MMP2, CACNA1C, COL3A1, LOX, TBX1
 GO:0007507 8 / 273 6.7× 2.62e-5 1.10e-3 ✓ sig.
cartilage development
TGFBR2, ATP7A, COL3A1, MGP, TIMP1
 GO:0051216 5 / 89 12.8× 4.47e-5 1.66e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Ruptured thoracic aortic aneurysm Thoracoabdominal aortic aneurysm 0.889 8 1.28e-29 4.06e-28 ✓ sig.
Ruptured aortic aneurysm Thoracoabdominal aortic aneurysm 0.889 8 1.28e-29 4.06e-28 ✓ sig.
Ruptured aortic aneurysm Ruptured thoracic aortic aneurysm 0.889 8 1.28e-29 4.06e-28 ✓ sig.
Ruptured abdominal aortic aneurysm Thoracoabdominal aortic aneurysm 0.889 8 1.28e-29 4.06e-28 ✓ sig.
Ruptured abdominal aortic aneurysm Ruptured thoracic aortic aneurysm 0.889 8 1.28e-29 4.06e-28 ✓ sig.
Ruptured abdominal aortic aneurysm Ruptured aortic aneurysm 0.889 8 1.28e-29 4.06e-28 ✓ sig.
Aortic dissection Ruptured aortic aneurysm 0.174 4 9.12e-11 9.66e-10 ✓ sig.
Aortic dissection Thoracoabdominal aortic aneurysm 0.174 4 9.12e-11 9.66e-10 ✓ sig.
Aortic dissection Ruptured abdominal aortic aneurysm 0.174 4 9.12e-11 9.66e-10 ✓ sig.
Aortic dissection Ruptured thoracic aortic aneurysm 0.174 4 9.12e-11 9.66e-10 ✓ sig.
Shprintzen-goldberg syndrome Thoracoabdominal aortic aneurysm 0.200 2 7.08e-7 4.51e-6 ✓ sig.
Ruptured thoracic aortic aneurysm Shprintzen-goldberg syndrome 0.200 2 7.08e-7 4.51e-6 ✓ sig.
Ruptured aortic aneurysm Shprintzen-goldberg syndrome 0.200 2 7.08e-7 4.51e-6 ✓ sig.
Ruptured abdominal aortic aneurysm Shprintzen-goldberg syndrome 0.200 2 7.08e-7 4.51e-6 ✓ sig.
Aortic rupture Ruptured abdominal aortic aneurysm 0.167 2 2.36e-6 1.37e-5 ✓ sig.
Aortic rupture Ruptured aortic aneurysm 0.167 2 2.36e-6 1.37e-5 ✓ sig.
Aortic rupture Ruptured thoracic aortic aneurysm 0.167 2 2.36e-6 1.37e-5 ✓ sig.
Thoracoabdominal aortic aneurysm Varicose veins 0.143 2 4.95e-6 2.72e-5 ✓ sig.
Ruptured thoracic aortic aneurysm Varicose veins 0.143 2 4.95e-6 2.72e-5 ✓ sig.
Ruptured aortic aneurysm Varicose veins 0.143 2 4.95e-6 2.72e-5 ✓ sig.
Ruptured abdominal aortic aneurysm Varicose veins 0.143 2 4.95e-6 2.72e-5 ✓ sig.
Ruptured abdominal aortic aneurysm Thoracic aortic aneurysm 0.080 2 3.60e-5 1.75e-4 ✓ sig.
Ruptured aortic aneurysm Thoracic aortic aneurysm 0.080 2 3.60e-5 1.75e-4 ✓ sig.
Ruptured thoracic aortic aneurysm Thoracic aortic aneurysm 0.080 2 3.60e-5 1.75e-4 ✓ sig.
Thoracic aortic aneurysm Thoracoabdominal aortic aneurysm 0.080 2 3.60e-5 1.75e-4 ✓ sig.
Arterial tortuosity syndrome cutis laxa, autosomal recessive, type 1B 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Arterial tortuosity syndrome arterial tortuosity-bone fragility syndrome 0.250 1 1.95e-4 5.28e-4 ✓ sig.
cutis laxa, autosomal recessive, type 1B Ruptured thoracic aortic aneurysm 0.111 1 5.20e-4 1.04e-3 ✓ sig.
cutis laxa, autosomal recessive, type 1B Ruptured aortic aneurysm 0.111 1 5.20e-4 1.04e-3 ✓ sig.
cutis laxa, autosomal recessive, type 1B Ruptured abdominal aortic aneurysm 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Cutaneous polyarteritis nodosa Thoracoabdominal aortic aneurysm 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Cutaneous polyarteritis nodosa Ruptured thoracic aortic aneurysm 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Cutaneous polyarteritis nodosa Ruptured aortic aneurysm 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Cutaneous polyarteritis nodosa Ruptured abdominal aortic aneurysm 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Aortic dissection Atypical femoral fracture 0.037 2 8.39e-4 1.48e-3 ✓ sig.
Atypical femoral fracture Thoracic aortic aneurysm 0.037 2 8.39e-4 1.48e-3 ✓ sig.
Arterial tortuosity syndrome Ruptured abdominal aortic aneurysm 0.091 1 1.56e-3 2.36e-3 ✓ sig.