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 117

10 diseases · 18 shared-gene connections
10 Diseases
38 Unique genes
0.140 Avg. similarity score
Ectodermal dysplasia Most-connected disease (7 links)
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Disease Searched: ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 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 ⇵
Ectodermal dysplasia 7 7 32
Christ-siemens-touraine syndrome 6 6 5
Anhidrotic ectodermal dysplasia 4 4 1
Craniofrontonasal dysplasia 4 4 4
Hypohidrotic ectodermal dysplasia 4 4 7
X-linked hypohidrotic ectodermal dysplasia 4 4 2
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 3 3 1
ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 2 2 1
Absence of fingerprints-congenital milia syndrome 1 1 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
EDA 5 / 10 Anhidrotic ectodermal dysplasia, Christ-siemens-touraine syndrome, Craniofrontonasal dysplasia, Ectodermal dysplasia and 1 more
EDAR 4 / 10 Christ-siemens-touraine syndrome, Ectodermal dysplasia, ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive, Hypohidrotic ectodermal dysplasia
EDARADD 3 / 10 Christ-siemens-touraine syndrome, Ectodermal dysplasia, Hypohidrotic ectodermal dysplasia
KDF1 3 / 10 Ectodermal dysplasia, ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, Hypohidrotic ectodermal dysplasia
CSTB 2 / 10 Ectodermal dysplasia, Hypohidrotic ectodermal dysplasia
EDA2R 2 / 10 Christ-siemens-touraine syndrome, X-linked hypohidrotic ectodermal dysplasia
OPHN1 2 / 10 Craniofrontonasal dysplasia, X-linked intellectual disability-cerebellar hypoplasia syndrome
RANBP2 2 / 10 Christ-siemens-touraine syndrome, Ectodermal dysplasia
SMARCAD1 2 / 10 Absence of fingerprints-congenital milia syndrome, Ectodermal dysplasia
WNT10A 2 / 10 Ectodermal dysplasia, Hypohidrotic ectodermal dysplasia
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
EDA, EDAR, EDARADD, TRAF6, EDA2R, IKBKG, NFKBIA
 KEGG 7 / 105 21.1× 3.22e-8 2.57e-6 ✓ sig.
TNFs bind their physiological receptors
EDA, EDAR, EDARADD, EDA2R
 Reactome 4 / 29 43.6× 1.91e-6 9.13e-5 ✓ sig.
Formation of the cornified envelope
KRT16, KRT17, PKP1, KRT85, KRT74, DSP
 Reactome 6 / 130 14.6× 2.98e-6 1.33e-4 ✓ sig.
Keratinization
KRT16, KRT17, PKP1, KRT85, KRT74, DSP
 Reactome 6 / 152 12.5× 7.36e-6 2.77e-4 ✓ sig.
TRAF6 mediated NF-kB activation
TRAF6, IKBKG, NFKBIA
 Reactome 3 / 24 39.5× 5.65e-5 1.47e-3 ✓ sig.
Adherens junctions interactions
NECTIN1, NECTIN4, CDH3
 Reactome 3 / 32 29.6× 1.36e-4 2.96e-3 ✓ sig.
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
TRAF6, IKBKG, NFKBIA
 Reactome 3 / 33 28.7× 1.49e-4 3.18e-3 ✓ sig.
IkBA variant leads to EDA-ID
IKBKG, NFKBIA
 Reactome 2 / 7 90.3× 2.03e-4 4.06e-3 ✓ sig.
Nectin/Necl trans heterodimerization
NECTIN1, NECTIN4
 Reactome 2 / 7 90.3× 2.03e-4 4.06e-3 ✓ sig.
Adherens junction
NECTIN1, RHOA, LEF1, NECTIN4
 KEGG 4 / 93 13.6× 2.03e-4 4.07e-3 ✓ sig.
Ovarian tumor domain proteases
TRAF6, RHOA, IKBKG
 Reactome 3 / 38 25.0× 2.28e-4 4.45e-3 ✓ sig.
Negative regulation of TCF-dependent signaling by WNT ligand antagonists
LRP6, KREMEN1
 Reactome 2 / 8 79.0× 2.70e-4 5.08e-3 ✓ sig.
Apoptotic cleavage of cell adhesion proteins
PKP1, DSP
 Reactome 2 / 11 57.5× 5.27e-4 8.61e-3 ✓ sig.
SUMOylation of immune response proteins
IKBKG, NFKBIA
 Reactome 2 / 11 57.5× 5.27e-4 8.61e-3 ✓ sig.
NF-kB is activated and signals survival
TRAF6, NFKBIA
 Reactome 2 / 13 48.6× 7.44e-4 1.12e-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 ⇵
epidermis development
EDAR, EDA2R, TP63, CST6, KRT85, GRHL2, DSP
 GO:0008544 7 / 114 30.2× 2.82e-9 5.60e-7 ✓ sig.
hair follicle development
EDA, EDAR, WNT10A, TP63, HOXC13
 GO:0001942 5 / 48 51.2× 4.25e-8 5.93e-6 ✓ sig.
skin development
EDA, KDF1, WNT10A, RIPK4, DSP
 GO:0043588 5 / 55 44.7× 8.55e-8 1.07e-5 ✓ sig.
odontogenesis of dentin-containing tooth
EDA, EDAR, TRAF6, TP63, LEF1
 GO:0042475 5 / 56 43.9× 9.37e-8 1.16e-5 ✓ sig.
intermediate filament organization
KRT16, KRT17, KRT85, KRT74, DSP
 GO:0045109 5 / 70 35.1× 2.91e-7 3.05e-5 ✓ sig.
keratinization
KRT16, KRT17, KRT85, KRT74, CDH3
 GO:0031424 5 / 73 33.7× 3.59e-7 3.63e-5 ✓ sig.
cell junction assembly
OPHN1, RHOA, GRHL2
 GO:0034329 3 / 11 134× 1.27e-6 1.03e-4 ✓ sig.
cellular response to cytokine stimulus
TRAF6, RHOA, LEF1, NFKBIA
 GO:0071345 4 / 53 37.1× 3.96e-6 2.57e-4 ✓ sig.
trachea gland development
EDA, LEF1
 GO:0061153 2 / 2 492× 4.03e-6 2.60e-4 ✓ sig.
cell-cell adhesion
LRP6, ITGB4, NECTIN1, PKP1, CDH3, DSP
 GO:0098609 6 / 218 13.5× 4.76e-6 2.96e-4 ✓ sig.
positive regulation of canonical NF-kappaB signal transduction
EDA, EDAR, TRAF6, EDA2R, RHOA, IKBKG
 GO:0043123 6 / 232 12.7× 6.80e-6 3.97e-4 ✓ sig.
keratinocyte differentiation
KRT16, TP63, GRHL2, DSP
 GO:0030216 4 / 69 28.5× 1.14e-5 6.00e-4 ✓ sig.
regulation of epidermal cell division
KDF1, TP63
 GO:0010482 2 / 3 328× 1.21e-5 6.25e-4 ✓ sig.
intermediate filament cytoskeleton organization
KRT16, KRT74, DSP
 GO:0045104 3 / 23 64.1× 1.34e-5 6.78e-4 ✓ sig.
salivary gland cavitation
EDA, EDAR
 GO:0060662 2 / 5 197× 4.01e-5 1.57e-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 0.143 5 5.85e-13 7.20e-12 ✓ sig.
Christ-siemens-touraine syndrome Ectodermal dysplasia 0.118 4 7.67e-11 7.72e-10 ✓ sig.
Christ-siemens-touraine syndrome X-linked hypohidrotic ectodermal dysplasia 0.333 2 8.44e-8 5.94e-7 ✓ sig.
Christ-siemens-touraine syndrome Hypohidrotic ectodermal dysplasia 0.182 2 1.77e-6 9.96e-6 ✓ sig.
Anhidrotic ectodermal dysplasia X-linked hypohidrotic ectodermal dysplasia 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Anhidrotic ectodermal dysplasia Craniofrontonasal dysplasia 0.200 1 2.60e-4 6.51e-4 ✓ sig.
Craniofrontonasal dysplasia X-linked intellectual disability-cerebellar hypoplasia syndrome 0.200 1 2.60e-4 6.51e-4 ✓ sig.
Anhidrotic ectodermal dysplasia Christ-siemens-touraine syndrome 0.167 1 3.25e-4 7.71e-4 ✓ sig.
Christ-siemens-touraine syndrome ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 0.167 1 3.25e-4 7.71e-4 ✓ sig.
ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type Hypohidrotic ectodermal dysplasia 0.125 1 4.55e-4 9.73e-4 ✓ sig.
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive Hypohidrotic ectodermal dysplasia 0.125 1 4.55e-4 9.73e-4 ✓ sig.
Craniofrontonasal dysplasia X-linked hypohidrotic ectodermal dysplasia 0.167 1 5.19e-4 1.06e-3 ✓ sig.
Christ-siemens-touraine syndrome Craniofrontonasal dysplasia 0.111 1 1.30e-3 2.06e-3 ✓ sig.
Absence of fingerprints-congenital milia syndrome Ectodermal dysplasia 0.030 1 2.08e-3 2.97e-3 ✓ sig.
Ectodermal dysplasia ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 0.030 1 2.08e-3 2.97e-3 ✓ sig.
Anhidrotic ectodermal dysplasia Ectodermal dysplasia 0.030 1 2.08e-3 2.97e-3 ✓ sig.
Ectodermal dysplasia ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 0.030 1 2.08e-3 2.97e-3 ✓ sig.
Ectodermal dysplasia X-linked hypohidrotic ectodermal dysplasia 0.029 1 4.15e-3 5.23e-3 ✓ sig.