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 597

5 diseases · 7 shared-gene connections
5 Diseases
3 Unique genes
0.357 Avg. similarity score
Carnitine palmitoyltransferase 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 ⇵
Carnitine palmitoyltransferase deficiency 4 4 3
Carnitine palmitoyltransferase 2 deficiency, infantile 3 3 1
Carnitine palmitoyltransferase 2 deficiency, lethal neonatal 3 3 1
Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced 3 3 1
Carnitine palmitoyltransferase i deficiency, hepatic, type ia 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
CPT2 4 / 5 Carnitine palmitoyltransferase 2 deficiency, infantile, Carnitine palmitoyltransferase 2 deficiency, lethal neonatal, Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced, Carnitine palmitoyltransferase deficiency
CPT1A 2 / 5 Carnitine palmitoyltransferase deficiency, Carnitine palmitoyltransferase i deficiency, hepatic, type ia
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 ⇵
Carnitine metabolism
CPT1A, CPT2
 Reactome 2 / 14 572× 3.78e-6 1.30e-4 ✓ sig.
Fatty acid degradation
CPT1A, CPT2
 KEGG 2 / 43 186× 3.75e-5 8.67e-4 ✓ sig.
Fatty acid metabolism
CPT1A, CPT2
 KEGG 2 / 57 140× 6.62e-5 1.36e-3 ✓ sig.
PPAR signaling pathway
CPT1A, CPT2
 KEGG 2 / 76 105× 1.18e-4 2.16e-3 ✓ sig.
PPARA activates gene expression
CPT1A, CPT2
 Reactome 2 / 115 69.6× 2.71e-4 4.17e-3 ✓ sig.
Thermogenesis
CPT1A, CPT2
 KEGG 2 / 234 34.2× 1.12e-3 1.23e-2 ✓ sig.
RORA activates gene expression
CPT1A
 Reactome 1 / 18 222× 4.49e-3 3.39e-2 ✓ sig.
Signaling by Retinoic Acid
CPT1A
 Reactome 1 / 21 191× 5.24e-3 3.76e-2 ✓ sig.
Adipocytokine signaling pathway
CPT1A
 KEGG 1 / 70 57.2× 1.74e-2 7.89e-2
Glucagon signaling pathway
CPT1A
 KEGG 1 / 107 37.4× 2.65e-2 1.01e-1
Insulin resistance
CPT1A
 KEGG 1 / 109 36.7× 2.70e-2 1.02e-1
AMPK signaling pathway
CPT1A
 KEGG 1 / 122 32.8× 3.02e-2 1.09e-1
Alcoholic liver disease
CPT1A
 KEGG 1 / 144 27.8× 3.55e-2 1.19e-1
Efferocytosis
CPT1A
 KEGG 1 / 157 25.5× 3.87e-2 1.25e-1
Diabetic cardiomyopathy
CPT2
 KEGG 1 / 205 19.5× 5.03e-2 1.45e-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 ⇵
carnitine shuttle
CPT1A, CPT2
 GO:0006853 2 / 4 3,115× 1.03e-7 1.30e-5 ✓ sig.
carnitine metabolic process
CPT1A, CPT2
 GO:0009437 2 / 8 1,557× 4.81e-7 4.72e-5 ✓ sig.
long-chain fatty acid metabolic process
CPT1A, CPT2
 GO:0001676 2 / 29 430× 6.97e-6 4.11e-4 ✓ sig.
fatty acid beta-oxidation
CPT1A, CPT2
 GO:0006635 2 / 48 260× 1.94e-5 9.00e-4 ✓ sig.
fatty acid metabolic process
CPT1A, CPT2
 GO:0006631 2 / 211 59.0× 3.78e-4 7.86e-3 ✓ sig.
response to tetrachloromethane
CPT1A
 GO:1904772 1 / 3 2,076× 4.82e-4 9.24e-3 ✓ sig.
regulation of fatty acid oxidation
CPT1A
 GO:0046320 1 / 5 1,246× 8.03e-4 1.28e-2 ✓ sig.
aflatoxin metabolic process
CPT1A
 GO:0046222 1 / 7 890× 1.12e-3 1.55e-2 ✓ sig.
positive regulation of fatty acid beta-oxidation
CPT1A
 GO:0032000 1 / 10 623× 1.60e-3 1.88e-2 ✓ sig.
response to alkaloid
CPT1A
 GO:0043279 1 / 11 566× 1.76e-3 1.99e-2 ✓ sig.
cellular response to fatty acid
CPT1A
 GO:0071398 1 / 24 260× 3.85e-3 2.94e-2 ✓ sig.
eating behavior
CPT1A
 GO:0042755 1 / 26 240× 4.17e-3 3.06e-2 ✓ sig.
liver regeneration
CPT1A
 GO:0097421 1 / 29 215× 4.65e-3 3.24e-2 ✓ sig.
cytoplasmic pattern recognition receptor signaling pathway
CPT1A
 GO:0002753 1 / 33 189× 5.29e-3 3.43e-2 ✓ sig.
positive regulation of innate immune response
CPT1A
 GO:0045089 1 / 36 173× 5.77e-3 3.56e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Carnitine palmitoyltransferase 2 deficiency, infantile Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Carnitine palmitoyltransferase 2 deficiency, infantile Carnitine palmitoyltransferase 2 deficiency, lethal neonatal 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Carnitine palmitoyltransferase 2 deficiency, lethal neonatal Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Carnitine palmitoyltransferase 2 deficiency, infantile Carnitine palmitoyltransferase deficiency 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Carnitine palmitoyltransferase 2 deficiency, lethal neonatal Carnitine palmitoyltransferase deficiency 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced Carnitine palmitoyltransferase deficiency 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Carnitine palmitoyltransferase deficiency Carnitine palmitoyltransferase i deficiency, hepatic, type ia 0.250 1 1.94e-4 4.41e-4 ✓ sig.