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 160

9 diseases · 19 shared-gene connections
9 Diseases
21 Unique genes
0.245 Avg. similarity score
Anonychia Most-connected disease (6 links)
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Disease Searched: Dystrophic epidermolysis bullosa 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 ⇵
Anonychia 6 6 4
Dominant dystrophic epidermolysis bullosa with absence of skin 6 6 1
Dominant dystrophic epidermolysis bullosa, albopapular type 6 6 1
Dystrophic epidermolysis bullosa 5 5 2
Hallopeau siemens disease 5 5 2
Nail dystrophy 4 4 2
Duane retraction syndrome 2 2 12
Pachyonychia congenita 2 2 4
Sebocystomatosis 2 2 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
COL7A1 7 / 9 Anonychia, Dominant dystrophic epidermolysis bullosa with absence of skin, Dominant dystrophic epidermolysis bullosa, albopapular type, Duane retraction syndrome and 3 more
KRT17 3 / 9 Anonychia, Pachyonychia congenita, Sebocystomatosis
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 ⇵
Formation of the cornified envelope
KRT17, KRT16, KRT6A, KRT6B
 Reactome 4 / 130 17.6× 6.80e-5 1.71e-3 ✓ sig.
Keratinization
KRT17, KRT16, KRT6A, KRT6B
 Reactome 4 / 152 15.1× 1.25e-4 2.77e-3 ✓ sig.
Parkinson disease
GNAS, KIF5C, TUBA8, MFN2
 KEGG 4 / 268 8.5× 1.08e-3 1.49e-2 ✓ sig.
Estrogen signaling pathway
KRT17, GNAS, KRT16
 KEGG 3 / 139 12.3× 1.73e-3 2.13e-2 ✓ sig.
Signaling by SCF-KIT
FER, PTPN11
 Reactome 2 / 37 30.9× 1.87e-3 2.26e-2 ✓ sig.
Collagen degradation
COL7A1, MMP1
 Reactome 2 / 52 22.0× 3.66e-3 3.64e-2 ✓ sig.
Motor proteins
ACTR1B, KIF5C, TUBA8
 KEGG 3 / 194 8.8× 4.45e-3 4.19e-2 ✓ sig.
MET activates PTPN11
PTPN11
 Reactome 1 / 5 114× 8.71e-3 6.50e-2
Pathways of neurodegeneration - multiple diseases
ACTR1B, KIF5C, TUBA8, MFN2
 KEGG 4 / 480 4.8× 8.78e-3 6.54e-2
Salmonella infection
ACTR1B, KIF5C, TUBA8
 KEGG 3 / 248 6.9× 8.79e-3 6.54e-2
Gap junction
GNAS, TUBA8
 KEGG 2 / 89 12.9× 1.04e-2 7.28e-2
Staphylococcus aureus infection
KRT17, KRT16
 KEGG 2 / 99 11.6× 1.28e-2 8.22e-2
MAPK1 (ERK2) activation
PTPN11
 Reactome 1 / 9 63.5× 1.56e-2 9.30e-2
Huntington disease
ACTR1B, KIF5C, TUBA8
 KEGG 3 / 308 5.6× 1.58e-2 9.35e-2
Parathyroid hormone synthesis, secretion and action
GNAS, MAFB
 KEGG 2 / 115 9.9× 1.70e-2 9.75e-2

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
morphogenesis of an epithelium
KRT17, SOX9, KRT16, KRT6A
 GO:0002009 4 / 51 69.8× 2.85e-7 3.00e-5 ✓ sig.
intermediate filament organization
KRT17, KRT16, KRT6A, KRT6B
 GO:0045109 4 / 70 50.8× 1.03e-6 8.64e-5 ✓ sig.
keratinization
KRT17, KRT16, KRT6A, KRT6B
 GO:0031424 4 / 73 48.8× 1.22e-6 9.97e-5 ✓ sig.
Sertoli cell development
SOX9, FER
 GO:0060009 2 / 13 137× 9.31e-5 2.98e-3 ✓ sig.
negative regulation of chondrocyte differentiation
SOX9, PTPN11
 GO:0032331 2 / 23 77.4× 3.00e-4 6.97e-3 ✓ sig.
motor neuron axon guidance
CHN1, KIF5C
 GO:0008045 2 / 24 74.2× 3.27e-4 7.36e-3 ✓ sig.
platelet-derived growth factor receptor signaling pathway
FER, PTPN11
 GO:0048008 2 / 33 53.9× 6.22e-4 1.15e-2 ✓ sig.
homeostasis of number of cells within a tissue
SOX9, PTPN11
 GO:0048873 2 / 38 46.8× 8.25e-4 1.38e-2 ✓ sig.
epithelial cell proliferation involved in prostatic bud elongation
SOX9
 GO:0060517 1 / 1 890× 1.12e-3 1.68e-2 ✓ sig.
regulation of cell proliferation involved in tissue homeostasis
SOX9
 GO:0060784 1 / 1 890× 1.12e-3 1.68e-2 ✓ sig.
regulation of branching involved in lung morphogenesis
SOX9
 GO:0061046 1 / 1 890× 1.12e-3 1.68e-2 ✓ sig.
cell proliferation involved in heart morphogenesis
SOX9
 GO:0061323 1 / 1 890× 1.12e-3 1.68e-2 ✓ sig.
regulation of epithelial cell proliferation involved in lung morphogenesis
SOX9
 GO:2000794 1 / 1 890× 1.12e-3 1.68e-2 ✓ sig.
adherens junction disassembly
FER
 GO:0120179 1 / 1 890× 1.12e-3 1.68e-2 ✓ sig.
rhombomere 6 development
MAFB
 GO:0021572 1 / 1 890× 1.12e-3 1.68e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Dominant dystrophic epidermolysis bullosa with absence of skin Dominant dystrophic epidermolysis bullosa, albopapular type 0.500 1 6.49e-5 2.33e-4 ✓ sig.
Dominant dystrophic epidermolysis bullosa with absence of skin Dystrophic epidermolysis bullosa 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Dominant dystrophic epidermolysis bullosa with absence of skin Nail dystrophy 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Dominant dystrophic epidermolysis bullosa with absence of skin Hallopeau siemens disease 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Dominant dystrophic epidermolysis bullosa, albopapular type Dystrophic epidermolysis bullosa 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Dominant dystrophic epidermolysis bullosa, albopapular type Nail dystrophy 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Dominant dystrophic epidermolysis bullosa, albopapular type Hallopeau siemens disease 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Hallopeau siemens disease Nail dystrophy 0.250 1 2.60e-4 6.51e-4 ✓ sig.
Dystrophic epidermolysis bullosa Nail dystrophy 0.250 1 2.60e-4 6.51e-4 ✓ sig.
Dystrophic epidermolysis bullosa Hallopeau siemens disease 0.250 1 2.60e-4 6.51e-4 ✓ sig.
Anonychia Sebocystomatosis 0.200 1 2.60e-4 6.51e-4 ✓ sig.
Anonychia Dominant dystrophic epidermolysis bullosa with absence of skin 0.200 1 2.60e-4 6.51e-4 ✓ sig.
Pachyonychia congenita Sebocystomatosis 0.200 1 2.60e-4 6.51e-4 ✓ sig.
Anonychia Dominant dystrophic epidermolysis bullosa, albopapular type 0.200 1 2.60e-4 6.51e-4 ✓ sig.
Anonychia Dystrophic epidermolysis bullosa 0.167 1 5.19e-4 1.06e-3 ✓ sig.
Anonychia Hallopeau siemens disease 0.167 1 5.19e-4 1.06e-3 ✓ sig.
Dominant dystrophic epidermolysis bullosa, albopapular type Duane retraction syndrome 0.077 1 7.79e-4 1.41e-3 ✓ sig.
Dominant dystrophic epidermolysis bullosa with absence of skin Duane retraction syndrome 0.077 1 7.79e-4 1.41e-3 ✓ sig.
Anonychia Pachyonychia congenita 0.125 1 1.04e-3 1.74e-3 ✓ sig.