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 331

6 diseases · 12 shared-gene connections
6 Diseases
101 Unique genes
0.183 Avg. similarity score
Congenital central hypoventilation syndrome Most-connected disease (5 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 ⇵
Congenital central hypoventilation syndrome 5 5 9
Haddad syndrome 5 5 9
Central hypoventilation syndrome 4 4 3
Hirschsprung disease 4 4 67
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 4 4 1
Biliary atresia 2 2 31

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

Gene ⇵ Member diseases ⇵ Linked diseases
PHOX2B 5 / 6 Central hypoventilation syndrome, central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, Congenital central hypoventilation syndrome, Haddad syndrome and 1 more
EDN3 4 / 6 Biliary atresia, Congenital central hypoventilation syndrome, Haddad syndrome, Hirschsprung disease
GDNF 3 / 6 Congenital central hypoventilation syndrome, Haddad syndrome, Hirschsprung disease
LBX1 3 / 6 Central hypoventilation syndrome, Congenital central hypoventilation syndrome, Haddad syndrome
MYO1H 3 / 6 Central hypoventilation syndrome, Congenital central hypoventilation syndrome, Haddad syndrome
PAH 3 / 6 Biliary atresia, Congenital central hypoventilation syndrome, Haddad syndrome
RET 3 / 6 Congenital central hypoventilation syndrome, Haddad syndrome, Hirschsprung disease
ASCL1 2 / 6 Congenital central hypoventilation syndrome, Haddad syndrome
BDNF 2 / 6 Congenital central hypoventilation syndrome, Haddad syndrome
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 ⇵
ERBB2 Activates PTK6 Signaling
ERBB2, ERBB3, NRG1, NRG3
 Reactome 4 / 13 36.6× 3.18e-6 1.30e-4 ✓ sig.
GRB7 events in ERBB2 signaling
ERBB2, ERBB3, NRG1
 Reactome 3 / 5 71.3× 5.70e-6 2.11e-4 ✓ sig.
ERBB2 Regulates Cell Motility
ERBB2, ERBB3, NRG1, NRG3
 Reactome 4 / 15 31.7× 5.99e-6 2.20e-4 ✓ sig.
PI3K events in ERBB2 signaling
ERBB2, ERBB3, NRG1, NRG3
 Reactome 4 / 16 29.7× 7.93e-6 2.76e-4 ✓ sig.
RAF/MAP kinase cascade
GDNF, RET, ERBB2, ERBB3, GFRA1, NRG1, NRG3, NRTN
 Reactome 8 / 124 7.7× 9.32e-6 3.16e-4 ✓ sig.
SHC1 events in ERBB2 signaling
ERBB2, ERBB3, NRG1, NRG3
 Reactome 4 / 17 28.0× 1.03e-5 3.44e-4 ✓ sig.
Signaling by ERBB2
ERBB2, ERBB3, NRG1, NRG3
 Reactome 4 / 18 26.4× 1.32e-5 4.22e-4 ✓ sig.
Signaling by ERBB2 TMD/JMD mutants
ERBB2, ERBB3, NRG1, NRG3
 Reactome 4 / 22 21.6× 3.07e-5 8.49e-4 ✓ sig.
Downregulation of ERBB2 signaling
ERBB2, ERBB3, NRG1, NRG3
 Reactome 4 / 24 19.8× 4.40e-5 1.15e-3 ✓ sig.
Signaling by ERBB2 KD Mutants
ERBB2, ERBB3, NRG1, NRG3
 Reactome 4 / 25 19.0× 5.20e-5 1.32e-3 ✓ sig.
Signaling by ERBB4
ERBB3, NRG1, NRG3
 Reactome 3 / 11 32.4× 9.07e-5 2.07e-3 ✓ sig.
Downregulation of ERBB2:ERBB3 signaling
ERBB2, ERBB3, NRG1
 Reactome 3 / 13 27.4× 1.55e-4 3.19e-3 ✓ sig.
GRB2 events in ERBB2 signaling
ERBB2, NRG1, NRG3
 Reactome 3 / 14 25.5× 1.96e-4 3.85e-3 ✓ sig.
RET signaling
GDNF, RET, GFRA1, NRTN
 Reactome 4 / 40 11.9× 3.41e-4 5.93e-3 ✓ sig.
Constitutive Signaling by Aberrant PI3K in Cancer
VAV1, ERBB2, ERBB3, NRG1, NRG3
 Reactome 5 / 75 7.9× 4.12e-4 6.87e-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 ⇵
neural crest cell migration
EDN3, GDNF, RET, EDNRB, NRTN, SEMA3C, SEMA3D, SHH, SMO, SOX10, ZEB2
 GO:0001755 11 / 47 43.3× 9.74e-16 7.57e-13 ✓ sig.
enteric nervous system development
GDNF, PHOX2B, RET, EDNRB, SOX10
 GO:0048484 5 / 12 77.1× 3.21e-9 6.27e-7 ✓ sig.
peripheral nervous system development
GDNF, EDNRB, ERBB2, ERBB3, NRG1, SOX10
 GO:0007422 6 / 26 42.7× 4.52e-9 8.52e-7 ✓ sig.
neuron differentiation
DIAPH3, EDN3, ASCL1, GDNF, PHOX2B, RET, ERBB2, ERBB3, GFRA1, SHH, WNT8B
 GO:0030182 11 / 222 9.2× 3.23e-8 4.68e-6 ✓ sig.
glial cell-derived neurotrophic factor receptor signaling pathway
GDNF, RET, GFRA1, NRTN
 GO:0035860 4 / 11 67.3× 2.58e-7 2.68e-5 ✓ sig.
nervous system development
ASCL1, BDNF, GDNF, LBX1, RET, DSCAM, EDNRB, ERBB2, GFRA1, NRG1, NRG3, NRTN
 GO:0007399 16 / 631 4.7× 2.63e-7 2.73e-5 ✓ sig.
cell development
PHOX2B, AXIN2, NOTCH4, SHH, SMO
 GO:0048468 5 / 43 21.5× 3.41e-6 2.21e-4 ✓ sig.
axon guidance
EDN3, BDNF, RET, DSCAM, ECE1, SEMA3C, SEMA3D, SHH
 GO:0007411 8 / 192 7.7× 9.59e-6 5.05e-4 ✓ sig.
ERBB2-ERBB3 signaling pathway
ERBB2, ERBB3, NRG1
 GO:0038133 3 / 9 61.7× 1.26e-5 6.25e-4 ✓ sig.
cell population proliferation
EDN3, IL18, LBX1, PHOX2B, AXIN2, ERBB2, NRG1, SHH, SMO
 GO:0008283 9 / 263 6.3× 1.28e-5 6.32e-4 ✓ sig.
posterior midgut development
RET, EDNRB
 GO:0007497 2 / 2 185× 2.89e-5 1.19e-3 ✓ sig.
cell surface receptor protein tyrosine kinase signaling pathway
BDNF, RET, ERBB2, ERBB3, NRG1, NRTN
 GO:0007169 6 / 120 9.3× 4.77e-5 1.73e-3 ✓ sig.
embryonic organ development
GDNF, SHH, SMO, UTP25
 GO:0048568 4 / 42 17.6× 7.68e-5 2.49e-3 ✓ sig.
sympathetic nervous system development
ASCL1, GDNF, PHOX2B
 GO:0048485 3 / 17 32.7× 9.86e-5 2.99e-3 ✓ sig.
oligodendrocyte differentiation
ASCL1, ERBB2, SHH, SOX10
 GO:0048709 4 / 45 16.4× 1.01e-4 3.05e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Congenital central hypoventilation syndrome Haddad syndrome 0.900 9 7.47e-33 2.66e-31 ✓ sig.
Central hypoventilation syndrome Haddad syndrome 0.300 3 1.38e-10 1.43e-9 ✓ sig.
Central hypoventilation syndrome Congenital central hypoventilation syndrome 0.300 3 1.38e-10 1.43e-9 ✓ sig.
Haddad syndrome Hirschsprung disease 0.055 4 4.06e-8 3.21e-7 ✓ sig.
Congenital central hypoventilation syndrome Hirschsprung disease 0.055 4 4.06e-8 3.21e-7 ✓ sig.
Biliary atresia Haddad syndrome 0.051 2 1.40e-4 4.19e-4 ✓ sig.
Biliary atresia Congenital central hypoventilation syndrome 0.051 2 1.40e-4 4.19e-4 ✓ sig.
Central hypoventilation syndrome central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 0.250 1 1.95e-4 5.28e-4 ✓ sig.
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Haddad syndrome 0.100 1 5.84e-4 1.14e-3 ✓ sig.
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Congenital central hypoventilation syndrome 0.100 1 5.84e-4 1.14e-3 ✓ sig.
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Hirschsprung disease 0.015 1 4.35e-3 5.45e-3 ✓ sig.
Central hypoventilation syndrome Hirschsprung disease 0.014 1 1.30e-2 1.45e-2 ✓ sig.