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 35

18 diseases · 33 shared-gene connections
18 Diseases
220 Unique genes
0.110 Avg. similarity score
Corneal dystrophy Most-connected disease (10 links)
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Disease Searched: Neurodevelopmental disorder with microcephaly and structural brain anomalies 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 10 10 32
Corneal endothelial dystrophy 8 8 7
Fuchs endothelial dystrophy 6 6 23
Hereditary corneal dystrophy 6 6 12
Posterior polymorphous corneal dystrophy 6 6 5
Congenital hereditary endothelial dystrophy 5 5 2
Corneal disease 5 5 12
Adrenal gland neoplasms 3 3 7
Corneal edema 3 3 4
Eye disease 3 3 95
Corneal dystrophy, gelatinous drop-like 2 2 1
Deafness, autosomal dominant 28 2 2 1
Hyperopia 2 2 79
Congenital stromal corneal dystrophy 1 1 2
Neurodevelopmental disorder with microcephaly and structural brain anomalies 1 1 1
Neutral lipid storage myopathy 1 1 1
Trichotillomania 1 1 2
White spongue nevus 1 1 2

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

Gene ⇵ Member diseases ⇵ Linked diseases
TCF4 7 / 18 Adrenal gland neoplasms, Corneal disease, Corneal dystrophy, Corneal edema and 3 more
COL8A2 5 / 18 Corneal dystrophy, Corneal endothelial dystrophy, Fuchs endothelial dystrophy, Hereditary corneal dystrophy and 1 more
SLC4A11 5 / 18 Congenital hereditary endothelial dystrophy, Corneal dystrophy, Corneal endothelial dystrophy, Fuchs endothelial dystrophy and 1 more
ZEB1 5 / 18 Corneal dystrophy, Corneal endothelial dystrophy, Fuchs endothelial dystrophy, Hereditary corneal dystrophy and 1 more
LAMB1 4 / 18 Corneal disease, Corneal dystrophy, Eye disease, Fuchs endothelial dystrophy
OVOL2 4 / 18 Congenital hereditary endothelial dystrophy, Corneal dystrophy, Hereditary corneal dystrophy, Posterior polymorphous corneal dystrophy
AGBL1 3 / 18 Corneal dystrophy, Corneal endothelial dystrophy, Fuchs endothelial dystrophy
COL24A1 3 / 18 Corneal disease, Corneal dystrophy, Eye disease
COL5A1 3 / 18 Corneal disease, Corneal dystrophy, Eye disease
GRHL2 3 / 18 Corneal dystrophy, Deafness, autosomal dominant 28, Posterior polymorphous corneal dystrophy
KANK4 3 / 18 Corneal dystrophy, Eye disease, Fuchs endothelial dystrophy
KRT3 3 / 18 Corneal disease, Corneal dystrophy, Corneal endothelial dystrophy
RXRA 3 / 18 Corneal disease, Corneal dystrophy, Eye disease
TACSTD2 3 / 18 Corneal dystrophy, Corneal dystrophy, gelatinous drop-like, Hereditary corneal dystrophy
VSX1 3 / 18 Corneal dystrophy, Hereditary corneal dystrophy, Posterior polymorphous corneal dystrophy
ANTXR1 2 / 18 Corneal dystrophy, Eye disease
C14ORF39 2 / 18 Eye disease, Hyperopia
CHRNB1 2 / 18 Corneal dystrophy, Eye disease
CYP4V2 2 / 18 Corneal dystrophy, Hereditary corneal dystrophy
DCN 2 / 18 Congenital stromal corneal dystrophy, Corneal dystrophy
DYNC1I2 2 / 18 Eye disease, Neurodevelopmental disorder with microcephaly and structural brain anomalies
ELOVL4 2 / 18 Corneal dystrophy, Hereditary corneal dystrophy
GDPD5 2 / 18 Corneal dystrophy, Eye disease
GJD2 2 / 18 Eye disease, Hyperopia
KCNQ5 2 / 18 Eye disease, Hyperopia
KERA 2 / 18 Corneal dystrophy, Hereditary corneal dystrophy
KLKB1 2 / 18 Corneal dystrophy, Hereditary corneal dystrophy
KRT12 2 / 18 Corneal dystrophy, Hereditary corneal dystrophy
KRT4 2 / 18 Corneal disease, White spongue nevus
LAMA2 2 / 18 Eye disease, Hyperopia
PNPLA2 2 / 18 Fuchs endothelial dystrophy, Neutral lipid storage myopathy
PRSS56 2 / 18 Eye disease, Hyperopia
RASGEF1B 2 / 18 Eye disease, Hyperopia
RBFOX1 2 / 18 Eye disease, Hyperopia
RDH5 2 / 18 Eye disease, Hyperopia
RGR 2 / 18 Eye disease, Hyperopia
SHISA6 2 / 18 Eye disease, Hyperopia
SLITRK1 2 / 18 Hyperopia, Trichotillomania
SPARCL1 2 / 18 Congenital stromal corneal dystrophy, Corneal dystrophy
SSBP3 2 / 18 Fuchs endothelial dystrophy, Hyperopia
TGFBI 2 / 18 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, LAMA2, LAMA5, LAMC1
 Reactome 6 / 30 10.9× 1.45e-5 3.68e-4 ✓ sig.
The canonical retinoid cycle in rods (twilight vision)
CYP4V2, RDH5, LRAT, RLBP1, RPE65
 Reactome 5 / 20 13.6× 2.44e-5 5.65e-4 ✓ sig.
Laminin interactions
LAMB1, LAMA2, COL18A1, LAMA5, LAMC1
 Reactome 5 / 28 9.7× 1.37e-4 2.27e-3 ✓ sig.
Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)
MC2R, POMC
 Reactome 2 / 2 54.6× 3.34e-4 4.59e-3 ✓ sig.
Collagen chain trimerization
COL24A1, COL5A1, COL17A1, COL8A2, COL18A1
 Reactome 5 / 44 6.2× 1.20e-3 1.24e-2 ✓ sig.
Retinoid cycle disease events
RDH5, LRAT, RLBP1
 Reactome 3 / 13 12.6× 1.51e-3 1.48e-2 ✓ sig.
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
SPARCL1, LAMB1, IGF1, BMP4, IL6, LAMC1, PNPLA2, APOE
 Reactome 8 / 125 3.5× 2.10e-3 1.88e-2 ✓ sig.
Cholesterol metabolism
SOAT1, ABCA1, LRP2, APOE, LCAT
 KEGG 5 / 51 5.4× 2.33e-3 2.04e-2 ✓ sig.
Assembly of collagen fibrils and other multimeric structures
COL24A1, COL5A1, COL17A1, COL8A2, COL18A1
 Reactome 5 / 51 5.4× 2.33e-3 2.04e-2 ✓ sig.
Post-translational protein phosphorylation
SPARCL1, LAMB1, BMP4, IL6, LAMC1, PNPLA2, APOE
 Reactome 7 / 108 3.5× 3.67e-3 2.82e-2 ✓ sig.
Toxoplasmosis
LAMB1, HLA-DQA1, HLA-DQB1, JAK2, LAMA2, LAMA5, LAMC1
 KEGG 7 / 112 3.4× 4.49e-3 3.25e-2 ✓ sig.
Retinoid metabolism and transport
LRAT, LRP2, AGRN, APOE
 Reactome 4 / 41 5.3× 6.53e-3 4.18e-2 ✓ sig.
Small cell lung cancer
LAMB1, RXRA, LAMA2, RARB, LAMA5, LAMC1
 KEGG 6 / 93 3.5× 7.17e-3 4.44e-2 ✓ sig.
Collagen biosynthesis and modifying enzymes
COL24A1, COL5A1, COL17A1, COL8A2, COL18A1
 Reactome 5 / 67 4.1× 7.58e-3 4.60e-2 ✓ sig.
Type I diabetes mellitus
HLA-C, HLA-DQA1, HLA-DQB1, PTPRN2
 KEGG 4 / 44 5.0× 8.39e-3 4.90e-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, EFEMP1, GJD2, RDH5, RGR, TYR, LRAT
 GO:0007601 17 / 215 6.7× 7.28e-10 1.74e-7 ✓ sig.
retinoid metabolic process
CYP4V2, RDH5, LRAT, LRP2, RPE65, PNPLA2
 GO:0001523 6 / 38 13.4× 5.01e-6 3.10e-4 ✓ sig.
camera-type eye development
GRHL2, BMP4, EFEMP1, PRSS56, RPGRIP1L, RPE65, CHD7
 GO:0043010 7 / 74 8.0× 2.63e-5 1.11e-3 ✓ sig.
lipoprotein biosynthetic process
ABCA1, APOE, LCAT
 GO:0042158 3 / 6 42.5× 3.14e-5 1.27e-3 ✓ sig.
regulation of basement membrane organization
LAMB1, LAMA2, LAMC1
 GO:0110011 3 / 6 42.5× 3.14e-5 1.27e-3 ✓ sig.
vitamin A metabolic process
LRAT, RLBP1, RPE65
 GO:0006776 3 / 7 36.4× 5.44e-5 1.92e-3 ✓ sig.
positive regulation of neuron differentiation
TCF4, GDPD5, ZEB1, BMP4, PCP4, NEUROD2, VWC2
 GO:0045666 7 / 87 6.8× 7.49e-5 2.45e-3 ✓ sig.
negative regulation of branching involved in ureteric bud morphogenesis
TACSTD2, BMP4
 GO:0090191 2 / 2 84.9× 1.38e-4 3.83e-3 ✓ sig.
substrate adhesion-dependent cell spreading
LAMB1, ANTXR1, LAMA5, LAMC1, KIF14
 GO:0034446 5 / 46 9.2× 2.00e-4 5.00e-3 ✓ sig.
positive regulation of epithelial cell proliferation
LAMB1, IGF1, BMP4, TCF7L2, LAMC1, NOG
 GO:0050679 6 / 73 7.0× 2.19e-4 5.31e-3 ✓ sig.
regulation of neuronal synaptic plasticity
APOE, GRIN2C, NOG, RASGRF1
 GO:0048168 4 / 26 13.1× 2.28e-4 5.46e-3 ✓ sig.
phagosome maturation
PIKFYVE, MCOLN1, SLC9A9
 GO:0090382 3 / 11 23.2× 2.48e-4 5.80e-3 ✓ sig.
embryonic hindlimb morphogenesis
BMP4, RARB, RPGRIP1L, CHD7
 GO:0035116 4 / 29 11.7× 3.52e-4 7.39e-3 ✓ sig.
potassium ion transmembrane transport
MCOLN1, KCNH7, KCNMA1, KCNQ5, SLC24A3, SLC9A9, KCNA6, SLC9A6
 GO:0071805 8 / 150 4.5× 4.09e-4 8.16e-3 ✓ sig.
regulation of high-density lipoprotein particle assembly
ABCA1, LCAT
 GO:0090107 2 / 3 56.6× 4.11e-4 8.18e-3 ✓ 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 5.70e-34 1.21e-32 ✓ sig.
Corneal dystrophy Corneal endothelial dystrophy 0.176 6 3.31e-16 4.21e-15 ✓ sig.
Corneal dystrophy Fuchs endothelial dystrophy 0.143 7 1.90e-14 2.24e-13 ✓ sig.
Corneal dystrophy Posterior polymorphous corneal dystrophy 0.152 5 2.71e-14 3.18e-13 ✓ sig.
Corneal disease Corneal dystrophy 0.154 6 4.33e-14 5.00e-13 ✓ sig.
Corneal endothelial dystrophy Fuchs endothelial dystrophy 0.192 5 9.50e-14 1.07e-12 ✓ sig.
Corneal dystrophy Eye disease 0.076 9 2.08e-13 2.33e-12 ✓ sig.
Hereditary corneal dystrophy Posterior polymorphous corneal dystrophy 0.286 4 1.03e-12 1.11e-11 ✓ sig.
Eye disease Hyperopia 0.061 10 4.72e-11 4.55e-10 ✓ sig.
Corneal endothelial dystrophy Hereditary corneal dystrophy 0.176 3 1.24e-8 9.72e-8 ✓ sig.
Congenital hereditary endothelial dystrophy Hereditary corneal dystrophy 0.154 2 5.50e-7 3.46e-6 ✓ sig.
Fuchs endothelial dystrophy Hereditary corneal dystrophy 0.091 3 6.24e-7 3.91e-6 ✓ sig.
Corneal endothelial dystrophy Posterior polymorphous corneal dystrophy 0.182 2 1.75e-6 1.03e-5 ✓ sig.
Congenital hereditary endothelial dystrophy Corneal dystrophy 0.061 2 4.14e-6 2.33e-5 ✓ sig.
Congenital stromal corneal dystrophy Corneal dystrophy 0.061 2 4.14e-6 2.33e-5 ✓ sig.
Corneal disease Corneal endothelial dystrophy 0.111 2 1.15e-5 6.19e-5 ✓ sig.
Fuchs endothelial dystrophy Posterior polymorphous corneal dystrophy 0.074 2 2.10e-5 1.10e-4 ✓ sig.
Deafness, autosomal dominant 28 Posterior polymorphous corneal dystrophy 0.167 1 3.23e-4 6.41e-4 ✓ sig.
Congenital hereditary endothelial dystrophy Posterior polymorphous corneal dystrophy 0.143 1 6.46e-4 1.09e-3 ✓ sig.
Corneal dystrophy, gelatinous drop-like Hereditary corneal dystrophy 0.077 1 7.75e-4 1.25e-3 ✓ sig.
Congenital hereditary endothelial dystrophy Corneal endothelial dystrophy 0.111 1 9.04e-4 1.41e-3 ✓ sig.
Fuchs endothelial dystrophy Neutral lipid storage myopathy 0.042 1 1.49e-3 2.12e-3 ✓ sig.
Corneal disease White spongue nevus 0.071 1 1.55e-3 2.19e-3 ✓ sig.
Corneal edema Corneal endothelial dystrophy 0.091 1 1.81e-3 2.49e-3 ✓ sig.
Adrenal gland neoplasms Corneal edema 0.091 1 1.81e-3 2.49e-3 ✓ sig.
Corneal dystrophy Corneal dystrophy, gelatinous drop-like 0.030 1 2.07e-3 2.79e-3 ✓ sig.
Corneal dystrophy Deafness, autosomal dominant 28 0.030 1 2.07e-3 2.79e-3 ✓ sig.
Congenital hereditary endothelial dystrophy Fuchs endothelial dystrophy 0.040 1 2.97e-3 3.79e-3 ✓ sig.
Corneal disease Corneal edema 0.063 1 3.10e-3 3.93e-3 ✓ sig.
Adrenal gland neoplasms Corneal endothelial dystrophy 0.071 1 3.16e-3 4.00e-3 ✓ sig.
Adrenal gland neoplasms Corneal disease 0.053 1 5.41e-3 6.43e-3 ✓ sig.
Eye disease Neurodevelopmental disorder with microcephaly and structural brain anomalies 0.010 1 6.13e-3 7.21e-3 ✓ sig.
Hyperopia Trichotillomania 0.012 1 1.02e-2 1.14e-2 ✓ sig.