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Cluster 522

5 diseases · 7 shared-gene connections
5 Diseases
22 Unique genes
0.236 Avg. similarity score
Lipodystrophy 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 ⇵
Lipodystrophy 4 4 21
Familial partial lipodystrophy 3 3 7
Hypoinsulinemic hypoglycemia and body hemihypertrophy 3 3 1
Partial lipodystrophy 3 3 10
Lipodystrophy syndrome with neurological features 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
AKT2 4 / 5 Familial partial lipodystrophy, Hypoinsulinemic hypoglycemia and body hemihypertrophy, Lipodystrophy, Partial lipodystrophy
CAV1 3 / 5 Familial partial lipodystrophy, Lipodystrophy, Partial lipodystrophy
CIDEC 3 / 5 Familial partial lipodystrophy, Lipodystrophy, Partial lipodystrophy
LIPE 3 / 5 Familial partial lipodystrophy, Lipodystrophy, Partial lipodystrophy
LMNA 3 / 5 Familial partial lipodystrophy, Lipodystrophy, Partial lipodystrophy
PLIN1 3 / 5 Familial partial lipodystrophy, Lipodystrophy, Partial lipodystrophy
PPARG 3 / 5 Familial partial lipodystrophy, Lipodystrophy, Partial lipodystrophy
ADRA2A 2 / 5 Lipodystrophy, Partial lipodystrophy
LMNB2 2 / 5 Lipodystrophy, Partial lipodystrophy
PLAAT3 2 / 5 Lipodystrophy, Lipodystrophy syndrome with neurological features
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 ⇵
Regulation of lipolysis in adipocytes KEGG 5 / 59 46.3× 5.94e-8 3.55e-6 ✓ sig.
Apoptosis KEGG 4 / 137 15.9× 1.01e-4 1.91e-3 ✓ sig.
Apelin signaling pathway KEGG 4 / 140 15.6× 1.10e-4 2.05e-3 ✓ sig.
Glycerophospholipid metabolism KEGG 3 / 102 16.1× 8.15e-4 9.69e-3 ✓ sig.
VEGFR2 mediated vascular permeability Reactome 2 / 29 37.6× 1.26e-3 1.35e-2 ✓ sig.
AMPK signaling pathway KEGG 3 / 122 13.4× 1.37e-3 1.44e-2 ✓ sig.
Dual Incision in GG-NER Reactome 2 / 41 26.6× 2.52e-3 2.24e-2 ✓ sig.
Base excision repair KEGG 2 / 44 24.8× 2.89e-3 2.49e-2 ✓ sig.
Adrenaline signalling through Alpha-2 adrenergic receptor Reactome 1 / 3 182× 5.49e-3 3.87e-2 ✓ sig.
Inhibition of TSC complex formation by PKB Reactome 1 / 3 182× 5.49e-3 3.87e-2 ✓ sig.
Breakdown of the nuclear lamina Reactome 1 / 3 182× 5.49e-3 3.87e-2 ✓ sig.
Transcriptional regulation of white adipocyte differentiation Reactome 2 / 67 16.3× 6.59e-3 4.37e-2 ✓ sig.
AKT-mediated inactivation of FOXO1A Reactome 1 / 4 136× 7.31e-3 4.67e-2 ✓ sig.
Activation of AKT2 Reactome 1 / 4 136× 7.31e-3 4.67e-2 ✓ sig.
PPAR signaling pathway KEGG 2 / 76 14.4× 8.41e-3 5.11e-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 ⇵
negative regulation of lipid catabolic process GO:0050995 3 / 21 121× 1.86e-6 1.43e-4 ✓ sig.
nuclear envelope organization GO:0006998 3 / 24 106× 2.82e-6 2.00e-4 ✓ sig.
lipid metabolic process GO:0006629 8 / 840 8.1× 2.94e-6 2.06e-4 ✓ sig.
lipid storage GO:0019915 3 / 32 79.6× 6.87e-6 4.06e-4 ✓ sig.
lipid catabolic process GO:0016042 4 / 119 28.6× 1.05e-5 5.63e-4 ✓ sig.
nuclear pore localization GO:0051664 2 / 5 340× 1.32e-5 6.74e-4 ✓ sig.
ether lipid metabolic process GO:0046485 2 / 6 283× 1.98e-5 9.16e-4 ✓ sig.
protein localization to nuclear envelope GO:0090435 2 / 8 212× 3.69e-5 1.47e-3 ✓ sig.
phospholipid biosynthetic process GO:0008654 3 / 58 43.9× 4.19e-5 1.61e-3 ✓ sig.
negative regulation of cardiac muscle hypertrophy in response to stress GO:1903243 2 / 11 154× 7.23e-5 2.43e-3 ✓ sig.
lipid droplet organization GO:0034389 2 / 18 94.4× 2.00e-4 5.09e-3 ✓ sig.
regulation of smooth muscle contraction GO:0006940 2 / 21 80.9× 2.74e-4 6.35e-3 ✓ sig.
nuclear migration GO:0007097 2 / 22 77.2× 3.01e-4 6.80e-3 ✓ sig.
positive regulation of cell motility GO:2000147 2 / 23 73.9× 3.30e-4 7.16e-3 ✓ sig.
positive regulation of cholesterol efflux GO:0010875 2 / 27 62.9× 4.56e-4 8.93e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Lipodystrophy Partial lipodystrophy 0.391 9 2.08e-26 3.74e-25 ✓ sig.
Familial partial lipodystrophy Partial lipodystrophy 0.636 7 2.83e-24 4.73e-23 ✓ sig.
Familial partial lipodystrophy Lipodystrophy 0.318 7 2.75e-21 4.19e-20 ✓ sig.
Familial partial lipodystrophy Hypoinsulinemic hypoglycemia and body hemihypertrophy 0.125 1 4.52e-4 8.26e-4 ✓ sig.
Hypoinsulinemic hypoglycemia and body hemihypertrophy Partial lipodystrophy 0.091 1 6.46e-4 1.09e-3 ✓ sig.
Hypoinsulinemic hypoglycemia and body hemihypertrophy Lipodystrophy 0.045 1 1.36e-3 1.97e-3 ✓ sig.
Lipodystrophy Lipodystrophy syndrome with neurological features 0.045 1 1.36e-3 1.97e-3 ✓ sig.