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Cluster 173

9 diseases · 11 shared-gene connections
9 Diseases
25 Unique genes
0.080 Avg. similarity score
Hereditary sensory and autonomic neuropathy Most-connected disease (8 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)

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

Gene ⇵ Member diseases ⇵ Linked diseases
KIF1A 3 / 9 Hereditary sensory and autonomic neuropathy, Peho syndrome, Sensory neuropathy
NTRK1 3 / 9 Hereditary sensory and autonomic neuropathy, hereditary sensory and autonomic neuropathy type 4, Sensory neuropathy
WNK1 3 / 9 Hereditary sensory and autonomic neuropathy, neuropathy, hereditary sensory and autonomic, type 2A, Sensory neuropathy
ATL3 2 / 9 Hereditary sensory and autonomic neuropathy, neuropathy, hereditary sensory, type 1F
CCT5 2 / 9 Hereditary sensory and autonomic neuropathy, Hereditary sensory and autonomic neuropathy with spastic paraplegia
DNMT1 2 / 9 Hereditary sensory and autonomic neuropathy, Sensory neuropathy
FLVCR1 2 / 9 Hereditary sensory and autonomic neuropathy, Sensory neuropathy
NGF 2 / 9 Hereditary sensory and autonomic neuropathy, Sensory neuropathy
RETREG1 2 / 9 Hereditary sensory and autonomic neuropathy, Sensory neuropathy
SCN11A 2 / 9 Hereditary sensory and autonomic neuropathy, Sensory neuropathy
SPTLC1 2 / 9 Hereditary sensory and autonomic neuropathy, neuropathy, hereditary sensory and autonomic, type 1A
SPTLC2 2 / 9 Hereditary sensory and autonomic neuropathy, neuropathy, hereditary sensory and autonomic, type 1C
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 ⇵
TRKA activation by NGF Reactome 2 / 2 480× 4.16e-6 1.63e-4 ✓ sig.
ARMS-mediated activation Reactome 2 / 5 192× 4.14e-5 1.10e-3 ✓ sig.
Sphingolipid de novo biosynthesis Reactome 3 / 43 33.5× 9.31e-5 2.12e-3 ✓ sig.
PI3K/AKT activation Reactome 2 / 9 107× 1.48e-4 3.09e-3 ✓ sig.
Sphingolipid metabolism KEGG 3 / 54 26.7× 1.84e-4 3.68e-3 ✓ sig.
Retrograde neurotrophin signalling Reactome 2 / 11 87.3× 2.26e-4 4.32e-3 ✓ sig.
Frs2-mediated activation Reactome 2 / 12 80.1× 2.71e-4 4.96e-3 ✓ sig.
Sphingolipid signaling pathway KEGG 3 / 122 11.8× 2.00e-3 2.28e-2 ✓ sig.
Oligomerization of connexins into connexons Reactome 1 / 1 480× 2.08e-3 2.35e-2 ✓ sig.
Phase 0 - rapid depolarisation Reactome 2 / 44 21.8× 3.73e-3 3.59e-2 ✓ sig.
NFG and proNGF binds to p75NTR Reactome 1 / 2 240× 4.16e-3 3.87e-2 ✓ sig.
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 Reactome 1 / 3 160× 6.23e-3 5.06e-2
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 Reactome 1 / 3 160× 6.23e-3 5.06e-2
SUMOylation of DNA methylation proteins Reactome 1 / 4 120× 8.30e-3 6.10e-2
Axonal growth stimulation Reactome 1 / 4 120× 8.30e-3 6.10e-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 ⇵
sensory perception of pain GO:0019233 5 / 44 84.9× 2.94e-9 5.79e-7 ✓ sig.
detection of temperature stimulus involved in sensory perception of pain GO:0050965 4 / 20 149× 1.19e-8 1.99e-6 ✓ sig.
sphingosine biosynthetic process GO:0046512 3 / 16 140× 1.17e-6 9.41e-5 ✓ sig.
sphinganine biosynthetic process GO:0046511 2 / 2 747× 1.72e-6 1.28e-4 ✓ sig.
circadian rhythm GO:0007623 4 / 82 36.5× 4.06e-6 2.54e-4 ✓ sig.
behavioral response to formalin induced pain GO:0061368 2 / 3 498× 5.15e-6 3.08e-4 ✓ sig.
positive regulation of lipophagy GO:1904504 2 / 5 299× 1.71e-5 7.95e-4 ✓ sig.
endoplasmic reticulum membrane fusion GO:0016320 2 / 5 299× 1.71e-5 7.95e-4 ✓ sig.
ceramide biosynthetic process GO:0046513 3 / 41 54.7× 2.18e-5 9.61e-4 ✓ sig.
sphingolipid biosynthetic process GO:0030148 3 / 45 49.8× 2.89e-5 1.19e-3 ✓ sig.
endoplasmic reticulum organization GO:0007029 3 / 46 48.7× 3.09e-5 1.25e-3 ✓ sig.
detection of mechanical stimulus involved in sensory perception GO:0050974 2 / 8 187× 4.79e-5 1.74e-3 ✓ sig.
endoplasmic reticulum tubular network membrane organization GO:1990809 2 / 8 187× 4.79e-5 1.74e-3 ✓ sig.
sphingolipid metabolic process GO:0006665 3 / 59 38.0× 6.54e-5 2.20e-3 ✓ sig.
sphingomyelin biosynthetic process GO:0006686 2 / 11 136× 9.38e-5 2.88e-3 ✓ sig.

Pairs within this cluster, by significance