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 173
9
Diseases
25
Unique genes
0.080
Avg. similarity score
Hereditary sensory and autonomic neuropathy
Most-connected disease (8 links)
Disease
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Hereditary sensory and autonomic neuropathy
Sensory neuropathy
Peho syndrome
hereditary sensory and autonomic neuropathy type 4
neuropathy, hereditary sensory and autonomic, type 2A
Hereditary sensory and autonomic neuropathy with spastic paraplegia
neuropathy, hereditary sensory and autonomic, type 1A
neuropathy, hereditary sensory and autonomic, type 1C
neuropathy, hereditary sensory, type 1F
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Hereditary sensory and autonomic neuropathy | 8 | 8 | 19 |
| Sensory neuropathy | 4 | 4 | 13 |
| Peho syndrome | 2 | 2 | 2 |
| hereditary sensory and autonomic neuropathy type 4 | 2 | 2 | 1 |
| neuropathy, hereditary sensory and autonomic, type 2A | 2 | 2 | 1 |
| Hereditary sensory and autonomic neuropathy with spastic paraplegia | 1 | 1 | 1 |
| neuropathy, hereditary sensory and autonomic, type 1A | 1 | 1 | 1 |
| neuropathy, hereditary sensory and autonomic, type 1C | 1 | 1 | 1 |
| neuropathy, hereditary sensory, type 1F | 1 | 1 | 1 |
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. |