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Cluster 448

6 diseases · 9 shared-gene connections
6 Diseases
6 Unique genes
0.262 Avg. similarity score
Dysautonomia 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 ⇵
Dysautonomia 5 5 6
Hsan 1 4 4 2
Neuropathy, hereditary sensory and autonomic, type 1A 3 3 1
Vision loss 3 3 1
Neuropathy, hereditary sensory and autonomic, type 1C 2 2 1
Riley-day syndrome 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
SPTLC1 4 / 6 Dysautonomia, Hsan 1, Neuropathy, hereditary sensory and autonomic, type 1A, Vision loss
SPTLC2 3 / 6 Dysautonomia, Hsan 1, Neuropathy, hereditary sensory and autonomic, type 1C
ELP1 2 / 6 Dysautonomia, Riley-day 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 ⇵
Sphingolipid de novo biosynthesis Reactome 2 / 43 93.1× 1.86e-4 3.10e-3 ✓ sig.
Sphingolipid metabolism KEGG 2 / 54 74.1× 2.94e-4 4.44e-3 ✓ sig.
Sphingolipid signaling pathway KEGG 2 / 122 32.8× 1.49e-3 1.54e-2 ✓ sig.
Highly sodium permeable postsynaptic acetylcholine nicotinic receptors Reactome 1 / 7 286× 3.49e-3 2.83e-2 ✓ sig.
Highly calcium permeable nicotinic acetylcholine receptors Reactome 1 / 9 222× 4.49e-3 3.39e-2 ✓ sig.
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors Reactome 1 / 12 167× 5.98e-3 4.10e-2 ✓ sig.
Activation of Matrix Metalloproteinases Reactome 1 / 33 60.7× 1.64e-2 7.63e-2
Cholinergic synapse KEGG 1 / 115 17.4× 5.61e-2 1.55e-1
Influenza A KEGG 1 / 173 11.6× 8.34e-2 1.94e-1
Chemical carcinogenesis - receptor activation KEGG 1 / 215 9.3× 1.03e-1 2.20e-1
Neuroactive ligand-receptor interaction KEGG 1 / 370 5.4× 1.71e-1 3.00e-1
Metabolic pathways KEGG 2 / 1,563 2.6× 1.78e-1 3.07e-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 ⇵
sphinganine biosynthetic process GO:0046511 2 / 2 3,115× 8.59e-8 1.11e-5 ✓ sig.
positive regulation of lipophagy GO:1904504 2 / 5 1,246× 8.59e-7 7.55e-5 ✓ sig.
sphingomyelin biosynthetic process GO:0006686 2 / 11 566× 4.72e-6 3.03e-4 ✓ sig.
sphingosine biosynthetic process GO:0046512 2 / 16 389× 1.03e-5 5.56e-4 ✓ sig.
ceramide biosynthetic process GO:0046513 2 / 41 152× 7.01e-5 2.37e-3 ✓ sig.
sphingolipid biosynthetic process GO:0030148 2 / 45 138× 8.45e-5 2.73e-3 ✓ sig.
sphingolipid metabolic process GO:0006665 2 / 59 106× 1.46e-4 4.05e-3 ✓ sig.
regulation of acetylcholine secretion, neurotransmission GO:0014056 1 / 1 3,115× 3.21e-4 7.04e-3 ✓ sig.
regulation of fat cell apoptotic process GO:1904649 1 / 1 3,115× 3.21e-4 7.04e-3 ✓ sig.
amide biosynthetic process GO:0043604 1 / 2 1,557× 6.42e-4 1.11e-2 ✓ sig.
tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation GO:0002926 1 / 3 1,038× 9.63e-4 1.42e-2 ✓ sig.
synaptic transmission involved in micturition GO:0060084 1 / 4 779× 1.28e-3 1.67e-2 ✓ sig.
regulation of erythrocyte differentiation GO:0045646 1 / 6 519× 1.93e-3 2.07e-2 ✓ sig.
response to acetylcholine GO:1905144 1 / 8 389× 2.57e-3 2.40e-2 ✓ sig.
behavioral response to nicotine GO:0035095 1 / 9 346× 2.89e-3 2.55e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Dysautonomia Hsan 1 0.286 2 1.25e-7 8.63e-7 ✓ sig.
Neuropathy, hereditary sensory and autonomic, type 1A Vision loss 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Hsan 1 Neuropathy, hereditary sensory and autonomic, type 1A 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Hsan 1 Vision loss 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Hsan 1 Neuropathy, hereditary sensory and autonomic, type 1C 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Dysautonomia Neuropathy, hereditary sensory and autonomic, type 1A 0.143 1 3.87e-4 7.33e-4 ✓ sig.
Dysautonomia Vision loss 0.143 1 3.87e-4 7.33e-4 ✓ sig.
Dysautonomia Neuropathy, hereditary sensory and autonomic, type 1C 0.143 1 3.87e-4 7.33e-4 ✓ sig.
Dysautonomia Riley-day syndrome 0.143 1 3.87e-4 7.33e-4 ✓ sig.