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.

← Back to all clusters

Cluster 437

6 diseases · 14 shared-gene connections
6 Diseases
7 Unique genes
0.333 Avg. similarity score
Menkes disease Most-connected disease (5 links)
Log in to save this analysis

Save This Analysis

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 ⇵
Menkes disease 5 5 1
Neuronopathy, distal hereditary motor, x-linked 5 5 1
Occipital horn syndrome 5 5 1
X-linked distal spinal muscular atrophy 5 5 1
Aortic rupture 4 4 5
Au-kline syndrome 4 4 3

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

Gene ⇵ Member diseases ⇵ Linked diseases
ATP7A 6 / 6 Aortic rupture, Au-kline syndrome, Menkes disease, Neuronopathy, distal hereditary motor, x-linked and 2 more
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 ⇵
Degradation of the extracellular matrix
FBN1, MMP2, MMP9
 Reactome 3 / 70 73.5× 6.53e-6 2.04e-4 ✓ sig.
Activation of Matrix Metalloproteinases
MMP2, MMP9
 Reactome 2 / 33 104× 1.52e-4 2.65e-3 ✓ sig.
Bladder cancer
MMP2, MMP9
 KEGG 2 / 41 83.7× 2.36e-4 3.74e-3 ✓ sig.
EPH-ephrin mediated repulsion of cells
MMP2, MMP9
 Reactome 2 / 50 68.6× 3.52e-4 5.09e-3 ✓ sig.
Collagen degradation
MMP2, MMP9
 Reactome 2 / 52 66.0× 3.81e-4 5.41e-3 ✓ sig.
Extra-nuclear estrogen signaling
MMP2, MMP9
 Reactome 2 / 58 59.2× 4.74e-4 6.41e-3 ✓ sig.
Endocrine resistance
MMP2, MMP9
 KEGG 2 / 99 34.7× 1.38e-3 1.44e-2 ✓ sig.
Interleukin-4 and Interleukin-13 signaling
MMP2, MMP9
 Reactome 2 / 108 31.8× 1.63e-3 1.64e-2 ✓ sig.
Metabolism of vitamin K
VKORC1
 Reactome 1 / 3 572× 1.75e-3 1.73e-2 ✓ sig.
Leukocyte transendothelial migration
MMP2, MMP9
 KEGG 2 / 116 29.6× 1.88e-3 1.82e-2 ✓ sig.
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
FBN1, MMP2
 Reactome 2 / 125 27.5× 2.18e-3 2.03e-2 ✓ sig.
Ion influx/efflux at host-pathogen interface
ATP7A
 Reactome 1 / 4 429× 2.33e-3 2.13e-2 ✓ sig.
Relaxin signaling pathway
MMP2, MMP9
 KEGG 2 / 130 26.4× 2.36e-3 2.15e-2 ✓ sig.
Pathways in cancer
MMP2, MMP9, VHL
 KEGG 3 / 533 9.7× 2.66e-3 2.34e-2 ✓ sig.
Estrogen signaling pathway
MMP2, MMP9
 KEGG 2 / 139 24.7× 2.69e-3 2.36e-2 ✓ 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 ⇵
cellular response to UV-A
MMP2, MMP9
 GO:0071492 2 / 11 485× 6.60e-6 3.94e-4 ✓ sig.
response to amyloid-beta
MMP2, MMP9
 GO:1904645 2 / 15 356× 1.26e-5 6.50e-4 ✓ sig.
extracellular matrix organization
ATP7A, MMP2, MMP9
 GO:0030198 3 / 145 55.2× 1.57e-5 7.70e-4 ✓ sig.
endodermal cell differentiation
MMP2, MMP9
 GO:0035987 2 / 36 148× 7.53e-5 2.51e-3 ✓ sig.
collagen catabolic process
MMP2, MMP9
 GO:0030574 2 / 41 130× 9.79e-5 3.04e-3 ✓ sig.
extracellular matrix disassembly
MMP2, MMP9
 GO:0022617 2 / 47 114× 1.29e-4 3.71e-3 ✓ sig.
embryo implantation
MMP2, MMP9
 GO:0007566 2 / 48 111× 1.35e-4 3.82e-3 ✓ sig.
lung alveolus development
ATP7A, FBN1
 GO:0048286 2 / 49 109× 1.40e-4 3.94e-3 ✓ sig.
ephrin receptor signaling pathway
MMP2, MMP9
 GO:0048013 2 / 51 105× 1.52e-4 4.19e-3 ✓ sig.
positive regulation of vascular associated smooth muscle cell proliferation
MMP2, MMP9
 GO:1904707 2 / 53 101× 1.64e-4 4.41e-3 ✓ sig.
negative regulation of cation transmembrane transport
MMP9
 GO:1904063 1 / 1 2,670× 3.75e-4 7.81e-3 ✓ sig.
negative regulation of epithelial cell differentiation involved in kidney development
MMP9
 GO:2000697 1 / 1 2,670× 3.75e-4 7.81e-3 ✓ sig.
regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
HNRNPK
 GO:1902165 1 / 1 2,670× 3.75e-4 7.81e-3 ✓ sig.
negative regulation of apoptotic process
MMP9, HNRNPK, VHL
 GO:0043066 3 / 524 15.3× 7.05e-4 1.19e-2 ✓ sig.
activation of protein kinase A activity
FBN1
 GO:0034199 1 / 2 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 ⇵
Menkes disease X-linked distal spinal muscular atrophy 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Menkes disease Occipital horn syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Menkes disease Neuronopathy, distal hereditary motor, x-linked 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Neuronopathy, distal hereditary motor, x-linked X-linked distal spinal muscular atrophy 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Neuronopathy, distal hereditary motor, x-linked Occipital horn syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Occipital horn syndrome X-linked distal spinal muscular atrophy 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Au-kline syndrome X-linked distal spinal muscular atrophy 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Au-kline syndrome Menkes disease 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Au-kline syndrome Occipital horn syndrome 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Au-kline syndrome Neuronopathy, distal hereditary motor, x-linked 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Aortic rupture Menkes disease 0.167 1 3.23e-4 6.41e-4 ✓ sig.
Aortic rupture Neuronopathy, distal hereditary motor, x-linked 0.167 1 3.23e-4 6.41e-4 ✓ sig.
Aortic rupture Occipital horn syndrome 0.167 1 3.23e-4 6.41e-4 ✓ sig.
Aortic rupture X-linked distal spinal muscular atrophy 0.167 1 3.23e-4 6.41e-4 ✓ sig.