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 87

12 diseases · 27 shared-gene connections
12 Diseases
49 Unique genes
0.168 Avg. similarity score
Corneal dystrophy 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 ⇵
Corneal dystrophy 7 7 32
Fuchs endothelial dystrophy 7 7 23
Hereditary corneal dystrophy 7 7 12
Polymorphous corneal dystrophy 7 7 5
Posterior polymorphous corneal dystrophy 7 7 5
Congenital hereditary endothelial dystrophy 5 5 2
Corneal endothelial dystrophy 4 4 2
Craniofacial anomalies with anterior segment dysgenesis 4 4 1
Auditory perceptual disorder 3 3 2
Congenital stromal corneal dystrophy 1 1 2
intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 1 1 1
neutral lipid storage myopathy 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
VSX1 6 / 12 Auditory perceptual disorder, Corneal dystrophy, Craniofacial anomalies with anterior segment dysgenesis, Hereditary corneal dystrophy and 2 more
COL8A2 5 / 12 Corneal dystrophy, Fuchs endothelial dystrophy, Hereditary corneal dystrophy, Polymorphous corneal dystrophy and 1 more
OVOL2 5 / 12 Congenital hereditary endothelial dystrophy, Corneal dystrophy, Hereditary corneal dystrophy, Polymorphous corneal dystrophy and 1 more
SLC4A11 5 / 12 Congenital hereditary endothelial dystrophy, Corneal dystrophy, Corneal endothelial dystrophy, Fuchs endothelial dystrophy and 1 more
ZEB1 5 / 12 Corneal dystrophy, Fuchs endothelial dystrophy, Hereditary corneal dystrophy, Polymorphous corneal dystrophy and 1 more
GRHL2 3 / 12 Corneal dystrophy, Polymorphous corneal dystrophy, Posterior polymorphous corneal dystrophy
AGBL1 2 / 12 Corneal dystrophy, Fuchs endothelial dystrophy
CYP4V2 2 / 12 Corneal dystrophy, Hereditary corneal dystrophy
DCN 2 / 12 Congenital stromal corneal dystrophy, Corneal dystrophy
ELOVL4 2 / 12 Corneal dystrophy, Hereditary corneal dystrophy
KANK4 2 / 12 Corneal dystrophy, Fuchs endothelial dystrophy
KERA 2 / 12 Corneal dystrophy, Hereditary corneal dystrophy
KLKB1 2 / 12 Corneal dystrophy, Hereditary corneal dystrophy
KRT12 2 / 12 Corneal dystrophy, Hereditary corneal dystrophy
KRT3 2 / 12 Corneal dystrophy, Corneal endothelial dystrophy
LAMB1 2 / 12 Corneal dystrophy, Fuchs endothelial dystrophy
PIDD1 2 / 12 Fuchs endothelial dystrophy, intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
PNPLA2 2 / 12 Fuchs endothelial dystrophy, neutral lipid storage myopathy
SPARCL1 2 / 12 Congenital stromal corneal dystrophy, Corneal dystrophy
TACSTD2 2 / 12 Corneal dystrophy, Hereditary corneal dystrophy
TCF4 2 / 12 Corneal dystrophy, Fuchs endothelial dystrophy
TGFBI 2 / 12 Corneal dystrophy, Hereditary corneal dystrophy
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 ⇵
MET activates PTK2 signaling
COL24A1, COL5A1, LAMB1, LAMA5, LAMC1
 Reactome 5 / 30 40.9× 1.21e-7 7.73e-6 ✓ sig.
Collagen chain trimerization
COL17A1, COL24A1, COL5A1, COL8A2, COL18A1
 Reactome 5 / 44 27.9× 8.83e-7 4.38e-5 ✓ sig.
Assembly of collagen fibrils and other multimeric structures
COL17A1, COL24A1, COL5A1, COL8A2, COL18A1
 Reactome 5 / 51 24.0× 1.87e-6 8.31e-5 ✓ sig.
Laminin interactions
LAMB1, COL18A1, LAMA5, LAMC1
 Reactome 4 / 28 35.0× 4.66e-6 1.79e-4 ✓ sig.
Collagen biosynthesis and modifying enzymes
COL17A1, COL24A1, COL5A1, COL8A2, COL18A1
 Reactome 5 / 67 18.3× 7.32e-6 2.58e-4 ✓ sig.
Protein digestion and absorption
COL17A1, COL24A1, COL5A1, COL8A2, COL18A1
 KEGG 5 / 103 11.9× 5.95e-5 1.47e-3 ✓ sig.
Small cell lung cancer
LAMB1, RXRA, LAMA5, LAMC1
 KEGG 4 / 93 10.5× 5.47e-4 8.53e-3 ✓ sig.
Post-translational protein phosphorylation
SPARCL1, LAMB1, LAMC1, PNPLA2
 Reactome 4 / 108 9.1× 9.60e-4 1.32e-2 ✓ sig.
Collagen degradation
COL5A1, COL8A2, COL18A1
 Reactome 3 / 52 14.1× 1.23e-3 1.58e-2 ✓ sig.
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
SPARCL1, LAMB1, LAMC1, PNPLA2
 Reactome 4 / 125 7.8× 1.65e-3 1.99e-2 ✓ sig.
RORA activates gene expression
RXRA, RORA
 Reactome 2 / 18 27.2× 2.39e-3 2.61e-2 ✓ sig.
Integrin cell surface interactions
COL5A1, COL8A2, COL18A1
 Reactome 3 / 81 9.1× 4.36e-3 4.00e-2 ✓ sig.
Endogenous sterols
CYP4V2, RXRA
 Reactome 2 / 25 19.6× 4.61e-3 4.15e-2 ✓ sig.
SUMOylation of intracellular receptors
RXRA, RORA
 Reactome 2 / 27 18.2× 5.36e-3 4.58e-2 ✓ sig.
ECM-receptor interaction
LAMB1, LAMA5, LAMC1
 KEGG 3 / 89 8.3× 5.67e-3 4.75e-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 ⇵
visual perception
VSX1, CYP4V2, KERA, KRT12, TACSTD2, TGFBI, COL18A1
 GO:0007601 7 / 215 12.4× 1.38e-6 1.07e-4 ✓ sig.
substrate adhesion-dependent cell spreading
ANTXR1, LAMB1, LAMA5, LAMC1
 GO:0034446 4 / 46 33.2× 6.28e-6 3.60e-4 ✓ sig.
angiogenesis
OVOL2, TGFBI, COL8A2, COL18A1, RORA, THSD7A
 GO:0001525 6 / 284 8.1× 9.44e-5 2.90e-3 ✓ sig.
hemidesmosome assembly
COL17A1, LAMC1
 GO:0031581 2 / 6 127× 1.00e-4 3.03e-3 ✓ sig.
regulation of basement membrane organization
LAMB1, LAMC1
 GO:0110011 2 / 6 127× 1.00e-4 3.03e-3 ✓ sig.
cell adhesion
COL5A1, GRHL2, LAMB1, TGFBI, COL8A2, COL18A1, LAMA5, LAMC1
 GO:0007155 8 / 665 4.6× 3.06e-4 6.81e-3 ✓ sig.
phagosome maturation
PIKFYVE, MCOLN1
 GO:0090382 2 / 11 69.3× 3.65e-4 7.67e-3 ✓ sig.
cornea development in camera-type eye
KERA, KRT12
 GO:0061303 2 / 12 63.6× 4.37e-4 8.71e-3 ✓ sig.
positive regulation of integrin-mediated signaling pathway
LAMB1, LAMC1
 GO:2001046 2 / 13 58.7× 5.16e-4 9.76e-3 ✓ sig.
positive regulation of muscle cell differentiation
LAMB1, LAMC1
 GO:0051149 2 / 16 47.7× 7.90e-4 1.30e-2 ✓ sig.
negative regulation of epithelial cell migration
TACSTD2, PTPRG
 GO:0010633 2 / 17 44.9× 8.93e-4 1.40e-2 ✓ sig.
positive regulation of neuron differentiation
GDPD5, TCF4, ZEB1
 GO:0045666 3 / 87 13.2× 1.54e-3 1.95e-2 ✓ sig.
synaptic transmission, cholinergic
CHRNA7, CHRNB1
 GO:0007271 2 / 25 30.5× 1.94e-3 2.22e-2 ✓ sig.
regulation of epithelial cell proliferation
TACSTD2, LAMA5
 GO:0050678 2 / 25 30.5× 1.94e-3 2.22e-2 ✓ sig.
acetylcholine receptor signaling pathway
CHRNA7, CHRNB1
 GO:0095500 2 / 28 27.2× 2.44e-3 2.52e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Corneal dystrophy Hereditary corneal dystrophy 0.364 12 6.11e-34 2.26e-32 ✓ sig.
Polymorphous corneal dystrophy Posterior polymorphous corneal dystrophy 0.833 5 1.39e-19 2.72e-18 ✓ sig.
Corneal dystrophy Fuchs endothelial dystrophy 0.143 7 1.98e-14 2.87e-13 ✓ sig.
Corneal dystrophy Posterior polymorphous corneal dystrophy 0.152 5 2.79e-14 4.00e-13 ✓ sig.
Corneal dystrophy Polymorphous corneal dystrophy 0.152 5 2.79e-14 4.00e-13 ✓ sig.
Hereditary corneal dystrophy Posterior polymorphous corneal dystrophy 0.286 4 1.06e-12 1.35e-11 ✓ sig.
Hereditary corneal dystrophy Polymorphous corneal dystrophy 0.286 4 1.06e-12 1.35e-11 ✓ sig.
Congenital hereditary endothelial dystrophy Hereditary corneal dystrophy 0.154 2 5.57e-7 3.60e-6 ✓ sig.
Fuchs endothelial dystrophy Hereditary corneal dystrophy 0.091 3 6.35e-7 4.08e-6 ✓ sig.
Congenital stromal corneal dystrophy Corneal dystrophy 0.061 2 4.18e-6 2.33e-5 ✓ sig.
Congenital hereditary endothelial dystrophy Corneal dystrophy 0.061 2 4.18e-6 2.33e-5 ✓ sig.
Corneal dystrophy Corneal endothelial dystrophy 0.061 2 4.18e-6 2.33e-5 ✓ sig.
Fuchs endothelial dystrophy Posterior polymorphous corneal dystrophy 0.074 2 2.13e-5 1.06e-4 ✓ sig.
Fuchs endothelial dystrophy Polymorphous corneal dystrophy 0.074 2 2.13e-5 1.06e-4 ✓ sig.
Auditory perceptual disorder Craniofacial anomalies with anterior segment dysgenesis 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Congenital hereditary endothelial dystrophy Corneal endothelial dystrophy 0.250 1 2.60e-4 6.40e-4 ✓ sig.
Craniofacial anomalies with anterior segment dysgenesis Polymorphous corneal dystrophy 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Craniofacial anomalies with anterior segment dysgenesis Posterior polymorphous corneal dystrophy 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Auditory perceptual disorder Polymorphous corneal dystrophy 0.143 1 6.49e-4 1.22e-3 ✓ sig.
Congenital hereditary endothelial dystrophy Posterior polymorphous corneal dystrophy 0.143 1 6.49e-4 1.22e-3 ✓ sig.
Congenital hereditary endothelial dystrophy Polymorphous corneal dystrophy 0.143 1 6.49e-4 1.22e-3 ✓ sig.
Auditory perceptual disorder Posterior polymorphous corneal dystrophy 0.143 1 6.49e-4 1.22e-3 ✓ sig.
Craniofacial anomalies with anterior segment dysgenesis Hereditary corneal dystrophy 0.077 1 7.79e-4 1.39e-3 ✓ sig.
Fuchs endothelial dystrophy intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 0.042 1 1.49e-3 2.29e-3 ✓ sig.
Fuchs endothelial dystrophy neutral lipid storage myopathy 0.042 1 1.49e-3 2.29e-3 ✓ sig.
Corneal endothelial dystrophy Hereditary corneal dystrophy 0.071 1 1.56e-3 2.36e-3 ✓ sig.
Corneal endothelial dystrophy Fuchs endothelial dystrophy 0.040 1 2.99e-3 3.94e-3 ✓ sig.