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Cluster 192

9 diseases · 15 shared-gene connections
9 Diseases
35 Unique genes
0.154 Avg. similarity score
Ectodermal dysplasia Most-connected disease (8 links)
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Disease Searched: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 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)

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

Gene ⇵ Member diseases ⇵ Linked diseases
WNT10A 5 / 9 Ectodermal dysplasia, Ectodermal dysplasia WNT10A related, Hypohidrotic ectodermal dysplasia, Odonto-onycho-dermal dysplasia and 1 more
KDF1 3 / 9 Ectodermal dysplasia, Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, Hypohidrotic ectodermal dysplasia
CST6 2 / 9 Ectodermal dysplasia, Ectodermal dysplasia 15, hypohidrotic/hair type
CSTB 2 / 9 Ectodermal dysplasia, Hypohidrotic ectodermal dysplasia
EDAR 2 / 9 Ectodermal dysplasia, Hypohidrotic ectodermal dysplasia
EDARADD 2 / 9 Ectodermal dysplasia, Hypohidrotic ectodermal dysplasia
IKBKG 2 / 9 Ectodermal dysplasia, Hypohidrotic ectodermal dysplasia
KREMEN1 2 / 9 Ectodermal dysplasia, Ectodermal dysplasia 13, hair/tooth type
KRT85 2 / 9 Ectodermal dysplasia, Ectodermal dysplasia 4, hair/nail type
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 ⇵
NF-kappa B signaling pathway KEGG 6 / 105 19.6× 5.11e-7 2.19e-5 ✓ sig.
Formation of the cornified envelope Reactome 6 / 130 15.8× 1.80e-6 6.44e-5 ✓ sig.
Keratinization Reactome 6 / 152 13.5× 4.46e-6 1.39e-4 ✓ sig.
TRAF6 mediated NF-kB activation Reactome 3 / 24 42.9× 4.40e-5 9.16e-4 ✓ sig.
TNFs bind their physiological receptors Reactome 3 / 29 35.5× 7.87e-5 1.45e-3 ✓ sig.
Adherens junctions interactions Reactome 3 / 32 32.2× 1.06e-4 1.85e-3 ✓ sig.
TAK1 activates NFkB by phosphorylation and activation of IKKs complex Reactome 3 / 33 31.2× 1.17e-4 1.99e-3 ✓ sig.
Adherens junction KEGG 4 / 93 14.8× 1.47e-4 2.40e-3 ✓ sig.
IkBA variant leads to EDA-ID Reactome 2 / 7 98.0× 1.72e-4 2.71e-3 ✓ sig.
Nectin/Necl trans heterodimerization Reactome 2 / 7 98.0× 1.72e-4 2.71e-3 ✓ sig.
Ovarian tumor domain proteases Reactome 3 / 38 27.1× 1.78e-4 2.79e-3 ✓ sig.
Negative regulation of TCF-dependent signaling by WNT ligand antagonists Reactome 2 / 8 85.8× 2.28e-4 3.40e-3 ✓ sig.
Apoptotic cleavage of cell adhesion proteins Reactome 2 / 11 62.4× 4.46e-4 5.77e-3 ✓ sig.
SUMOylation of immune response proteins Reactome 2 / 11 62.4× 4.46e-4 5.77e-3 ✓ sig.
NF-kB is activated and signals survival Reactome 2 / 13 52.8× 6.31e-4 7.55e-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 ⇵
hair follicle development GO:0001942 5 / 48 55.6× 2.76e-8 4.24e-6 ✓ sig.
skin development GO:0043588 5 / 55 48.5× 5.56e-8 7.69e-6 ✓ sig.
odontogenesis of dentin-containing tooth GO:0042475 5 / 56 47.7× 6.10e-8 8.30e-6 ✓ sig.
epidermis development GO:0008544 6 / 114 28.1× 6.34e-8 8.59e-6 ✓ sig.
intermediate filament organization GO:0045109 5 / 70 38.1× 1.90e-7 2.14e-5 ✓ sig.
keratinization GO:0031424 5 / 73 36.6× 2.35e-7 2.55e-5 ✓ sig.
cellular response to cytokine stimulus GO:0071345 4 / 53 40.3× 2.83e-6 1.96e-4 ✓ sig.
cell-cell adhesion GO:0098609 6 / 218 14.7× 2.88e-6 1.99e-4 ✓ sig.
trachea gland development GO:0061153 2 / 2 534× 3.41e-6 2.28e-4 ✓ sig.
keratinocyte differentiation GO:0030216 4 / 69 31.0× 8.17e-6 4.56e-4 ✓ sig.
regulation of epidermal cell division GO:0010482 2 / 3 356× 1.02e-5 5.39e-4 ✓ sig.
intermediate filament cytoskeleton organization GO:0045104 3 / 23 69.6× 1.04e-5 5.46e-4 ✓ sig.
salivary gland cavitation GO:0060662 2 / 5 214× 3.40e-5 1.35e-3 ✓ sig.
hair follicle morphogenesis GO:0031069 3 / 34 47.1× 3.46e-5 1.37e-3 ✓ sig.
positive regulation of gene expression GO:0010628 7 / 504 7.4× 3.48e-5 1.37e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Ectodermal dysplasia Hypohidrotic ectodermal dysplasia 0.167 6 1.61e-15 2.00e-14 ✓ sig.
Ectodermal dysplasia WNT10A related Schopf-schulz-passarge syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Ectodermal dysplasia WNT10A related Odonto-onycho-dermal dysplasia 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Odonto-onycho-dermal dysplasia Schopf-schulz-passarge syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type Hypohidrotic ectodermal dysplasia 0.111 1 5.17e-4 9.13e-4 ✓ sig.
Ectodermal dysplasia WNT10A related Hypohidrotic ectodermal dysplasia 0.111 1 5.17e-4 9.13e-4 ✓ sig.
Hypohidrotic ectodermal dysplasia Schopf-schulz-passarge syndrome 0.111 1 5.17e-4 9.13e-4 ✓ sig.
Hypohidrotic ectodermal dysplasia Odonto-onycho-dermal dysplasia 0.111 1 5.17e-4 9.13e-4 ✓ sig.
Ectodermal dysplasia Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 0.029 1 2.13e-3 2.85e-3 ✓ sig.
Ectodermal dysplasia Ectodermal dysplasia 13, hair/tooth type 0.029 1 2.13e-3 2.85e-3 ✓ sig.
Ectodermal dysplasia Ectodermal dysplasia 15, hypohidrotic/hair type 0.029 1 2.13e-3 2.85e-3 ✓ sig.
Ectodermal dysplasia Ectodermal dysplasia 4, hair/nail type 0.029 1 2.13e-3 2.85e-3 ✓ sig.
Ectodermal dysplasia Ectodermal dysplasia WNT10A related 0.029 1 2.13e-3 2.85e-3 ✓ sig.
Ectodermal dysplasia Odonto-onycho-dermal dysplasia 0.029 1 2.13e-3 2.85e-3 ✓ sig.
Ectodermal dysplasia Schopf-schulz-passarge syndrome 0.029 1 2.13e-3 2.85e-3 ✓ sig.