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 367

5 diseases · 7 shared-gene connections
5 Diseases
3 Unique genes
0.345 Avg. similarity score
Beta-hydroxyisobutyryl-coa deacylase deficiency Most-connected disease (4 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 ⇵
Beta-hydroxyisobutyryl-coa deacylase deficiency 4 4 3
Cowchock syndrome 3 3 2
X-linked hereditary sensory and autonomic neuropathy with deafness 3 3 1
X-linked hereditary sensory and autonomic neuropathy with hearing loss 3 3 1
3-hydroxyisobutyryl-coa hydrolase deficiency 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
AIFM1 4 / 5 Beta-hydroxyisobutyryl-coa deacylase deficiency, Cowchock syndrome, X-linked hereditary sensory and autonomic neuropathy with deafness, X-linked hereditary sensory and autonomic neuropathy with hearing loss
HIBCH 2 / 5 3-hydroxyisobutyryl-coa hydrolase deficiency, Beta-hydroxyisobutyryl-coa deacylase deficiency
RAB33A 2 / 5 Beta-hydroxyisobutyryl-coa deacylase deficiency, Cowchock 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 ⇵
Branched-chain amino acid catabolism
HIBCH
 Reactome 1 / 20 200× 4.99e-3 4.37e-2 ✓ sig.
beta-Alanine metabolism
HIBCH
 KEGG 1 / 31 129× 7.72e-3 5.83e-2
Propanoate metabolism
HIBCH
 KEGG 1 / 32 125× 7.97e-3 5.96e-2
TBC/RABGAPs
RAB33A
 Reactome 1 / 46 87.0× 1.14e-2 7.44e-2
Valine, leucine and isoleucine degradation
HIBCH
 KEGG 1 / 48 83.4× 1.19e-2 7.61e-2
RAB geranylgeranylation
RAB33A
 Reactome 1 / 65 61.6× 1.62e-2 9.11e-2
Carbon metabolism
HIBCH
 KEGG 1 / 115 34.8× 2.85e-2 1.25e-1
Apoptosis
AIFM1
 KEGG 1 / 137 29.2× 3.38e-2 1.38e-1
Necroptosis
AIFM1
 KEGG 1 / 159 25.2× 3.92e-2 1.50e-1
Metabolic pathways
HIBCH
 KEGG 1 / 1,563 2.6× 3.42e-1 5.01e-1

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

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
protein import into mitochondrial intermembrane space
AIFM1
 GO:0045041 1 / 3 2,076× 4.82e-4 9.31e-3 ✓ sig.
mitochondrial disulfide relay system
AIFM1
 GO:0160203 1 / 3 2,076× 4.82e-4 9.31e-3 ✓ sig.
L-valine catabolic process
HIBCH
 GO:0006574 1 / 5 1,246× 8.03e-4 1.30e-2 ✓ sig.
mitochondrial respiratory chain complex assembly
AIFM1
 GO:0033108 1 / 6 1,038× 9.63e-4 1.47e-2 ✓ sig.
cellular response to aldosterone
AIFM1
 GO:1904045 1 / 7 890× 1.12e-3 1.62e-2 ✓ sig.
positive regulation of necroptotic process
AIFM1
 GO:0060545 1 / 8 779× 1.28e-3 1.75e-2 ✓ sig.
response to L-glutamate
AIFM1
 GO:1902065 1 / 12 519× 1.93e-3 2.20e-2 ✓ sig.
positive regulation of programmed cell death
AIFM1
 GO:0043068 1 / 17 366× 2.73e-3 2.68e-2 ✓ sig.
Rab protein signal transduction
RAB33A
 GO:0032482 1 / 17 366× 2.73e-3 2.68e-2 ✓ sig.
cellular response to nitric oxide
AIFM1
 GO:0071732 1 / 17 366× 2.73e-3 2.68e-2 ✓ sig.
branched-chain amino acid catabolic process
HIBCH
 GO:0009083 1 / 18 346× 2.89e-3 2.76e-2 ✓ sig.
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
AIFM1
 GO:0070059 1 / 36 173× 5.77e-3 3.94e-2 ✓ sig.
cellular response to estradiol stimulus
AIFM1
 GO:0071392 1 / 36 173× 5.77e-3 3.94e-2 ✓ sig.
antigen processing and presentation
RAB33A
 GO:0019882 1 / 48 130× 7.69e-3 4.52e-2 ✓ sig.
response to ischemia
AIFM1
 GO:0002931 1 / 63 98.9× 1.01e-2 5.16e-2

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Beta-hydroxyisobutyryl-coa deacylase deficiency Cowchock syndrome 0.500 2 2.53e-8 2.03e-7 ✓ sig.
X-linked hereditary sensory and autonomic neuropathy with deafness X-linked hereditary sensory and autonomic neuropathy with hearing loss 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Cowchock syndrome X-linked hereditary sensory and autonomic neuropathy with deafness 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Cowchock syndrome X-linked hereditary sensory and autonomic neuropathy with hearing loss 0.333 1 1.30e-4 3.90e-4 ✓ sig.
3-hydroxyisobutyryl-coa hydrolase deficiency Beta-hydroxyisobutyryl-coa deacylase deficiency 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Beta-hydroxyisobutyryl-coa deacylase deficiency X-linked hereditary sensory and autonomic neuropathy with deafness 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Beta-hydroxyisobutyryl-coa deacylase deficiency X-linked hereditary sensory and autonomic neuropathy with hearing loss 0.250 1 1.95e-4 5.28e-4 ✓ sig.