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.

← Back to all clusters

Cluster 267

7 diseases · 15 shared-gene connections
7 Diseases
6 Unique genes
0.344 Avg. similarity score
Congenital aortic valve atresia Most-connected disease (5 links)
Log in to save this analysis

Save This Analysis

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 aortic valve atresia 5 5 1
Congenital mitral valve atresia 5 5 1
Intellectual developmental disorder language autism 5 5 1
Malt lymphoma 5 5 5
intellectual disability-severe speech delay-mild dysmorphism syndrome 5 5 1
Intellectual developmental disorder seizures hypotonia skeletal 4 4 2
combined immunodeficiency due to MALT1 deficiency 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
FOXP1 6 / 7 Congenital aortic valve atresia, Congenital mitral valve atresia, Intellectual developmental disorder language autism, Intellectual developmental disorder seizures hypotonia skeletal and 2 more
MALT1 2 / 7 combined immunodeficiency due to MALT1 deficiency, Malt lymphoma
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
BCL10, BIRC3, MALT1
 KEGG 3 / 105 57.2× 1.27e-5 4.11e-4 ✓ sig.
Activation of NF-kappaB in B cells
BCL10, MALT1
 Reactome 2 / 66 60.7× 4.40e-4 7.21e-3 ✓ sig.
FCERI mediated NF-kB activation
BCL10, MALT1
 Reactome 2 / 79 50.7× 6.30e-4 9.55e-3 ✓ sig.
CLEC7A (Dectin-1) signaling
BCL10, MALT1
 Reactome 2 / 79 50.7× 6.30e-4 9.55e-3 ✓ sig.
B cell receptor signaling pathway
BCL10, MALT1
 KEGG 2 / 91 44.0× 8.35e-4 1.18e-2 ✓ sig.
Downstream TCR signaling
BCL10, MALT1
 Reactome 2 / 98 40.9× 9.68e-4 1.32e-2 ✓ sig.
C-type lectin receptor signaling pathway
BCL10, MALT1
 KEGG 2 / 105 38.1× 1.11e-3 1.47e-2 ✓ sig.
T cell receptor signaling pathway
BCL10, MALT1
 KEGG 2 / 122 32.8× 1.49e-3 1.84e-2 ✓ sig.
CLEC7A/inflammasome pathway
MALT1
 Reactome 1 / 6 334× 2.99e-3 3.07e-2 ✓ sig.
Tuberculosis
BCL10, MALT1
 KEGG 2 / 181 22.1× 3.26e-3 3.26e-2 ✓ sig.
Attachment of GPI anchor to uPAR
PIGT
 Reactome 1 / 7 286× 3.49e-3 3.42e-2 ✓ sig.
Regulation of necroptotic cell death
BIRC3
 Reactome 1 / 11 182× 5.48e-3 4.65e-2 ✓ sig.
Shigellosis
BCL10, MALT1
 KEGG 2 / 250 16.0× 6.13e-3 5.01e-2
RIPK1-mediated regulated necrosis
BIRC3
 Reactome 1 / 16 125× 7.97e-3 5.96e-2
Transcriptional regulation of pluripotent stem cells
FOXP1
 Reactome 1 / 17 118× 8.46e-3 6.20e-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 ⇵
response to fungus
BCL10, MALT1
 GO:0009620 2 / 6 1,038× 1.29e-6 1.01e-4 ✓ sig.
positive regulation of protein ubiquitination
BCL10, BIRC3, MALT1
 GO:0031398 3 / 78 120× 1.39e-6 1.07e-4 ✓ sig.
regulation of T cell receptor signaling pathway
BCL10, MALT1
 GO:0050856 2 / 8 779× 2.40e-6 1.67e-4 ✓ sig.
positive regulation of canonical NF-kappaB signal transduction
BCL10, BIRC3, MALT1
 GO:0043123 3 / 232 40.3× 3.68e-5 1.43e-3 ✓ sig.
non-canonical NF-kappaB signal transduction
BCL10, BIRC3
 GO:0038061 2 / 34 183× 4.80e-5 1.74e-3 ✓ sig.
regulation of apoptotic process
BCL10, BIRC3, MALT1
 GO:0042981 3 / 254 36.8× 4.82e-5 1.74e-3 ✓ sig.
lipopolysaccharide-mediated signaling pathway
BCL10, MALT1
 GO:0031663 2 / 38 164× 6.01e-5 2.06e-3 ✓ sig.
positive regulation of T cell activation
BCL10, MALT1
 GO:0050870 2 / 45 138× 8.45e-5 2.67e-3 ✓ sig.
regulation of macrophage colony-stimulating factor production
FOXP1
 GO:1901256 1 / 1 3,115× 3.21e-4 7.03e-3 ✓ sig.
positive regulation of immune effector process
MALT1
 GO:0002699 1 / 1 3,115× 3.21e-4 7.03e-3 ✓ sig.
positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains
MALT1
 GO:0002824 1 / 1 3,115× 3.21e-4 7.03e-3 ✓ sig.
regulation of inflammatory response
FOXP1, BIRC3
 GO:0050727 2 / 106 58.8× 4.71e-4 9.20e-3 ✓ sig.
T cell receptor signaling pathway
BCL10, MALT1
 GO:0050852 2 / 121 51.5× 6.13e-4 1.10e-2 ✓ sig.
positive regulation of interleukin-21 production
FOXP1
 GO:0032745 1 / 2 1,557× 6.42e-4 1.13e-2 ✓ sig.
regulation of monocyte differentiation
FOXP1
 GO:0045655 1 / 2 1,557× 6.42e-4 1.13e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Congenital aortic valve atresia Congenital mitral valve atresia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Congenital aortic valve atresia Intellectual developmental disorder language autism 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Congenital aortic valve atresia intellectual disability-severe speech delay-mild dysmorphism syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Congenital mitral valve atresia Intellectual developmental disorder language autism 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Congenital mitral valve atresia intellectual disability-severe speech delay-mild dysmorphism syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Intellectual developmental disorder language autism intellectual disability-severe speech delay-mild dysmorphism syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Congenital aortic valve atresia Intellectual developmental disorder seizures hypotonia skeletal 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Congenital mitral valve atresia Intellectual developmental disorder seizures hypotonia skeletal 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Intellectual developmental disorder language autism Intellectual developmental disorder seizures hypotonia skeletal 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Intellectual developmental disorder seizures hypotonia skeletal intellectual disability-severe speech delay-mild dysmorphism syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
combined immunodeficiency due to MALT1 deficiency Malt lymphoma 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Congenital aortic valve atresia Malt lymphoma 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Congenital mitral valve atresia Malt lymphoma 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Intellectual developmental disorder language autism Malt lymphoma 0.167 1 3.25e-4 7.58e-4 ✓ sig.
intellectual disability-severe speech delay-mild dysmorphism syndrome Malt lymphoma 0.167 1 3.25e-4 7.58e-4 ✓ sig.