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 13
23
Diseases
492
Unique genes
0.199
Avg. similarity score
Dejerine-sottas disease
Most-connected disease (15 links)
Disease
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Dejerine-sottas disease
Hereditary motor and sensory neuropathies
Hypertrophic neuropathy
Roussy-levy syndrome
Charcot-marie-tooth disease
Distal spinal muscular atrophy
Peroneal muscle atrophy
Distal hereditary motor neuropathy
Charcot-marie-tooth disease, x-linked
Spinal muscular atrophy
Congenital pes cavus
Charcot-Marie-Tooth disease X-linked dominant 6
Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 4B3
Motor neuron disease
Charcot-Marie-Tooth disease type 2
neuronopathy, distal hereditary motor, autosomal recessive 5
Amyotrophic lateral sclerosis
X-linked hereditary motor and sensory neuropathy
Telangiectasia–intellectual disability–microcephaly–metaphyseal dysplasia–eye abnormalities–short stature syndrome
Vexas syndrome
multiple acyl-CoA dehydrogenase deficiency
Member diseases (most connected first ‐ the cluster's core)
Top shared genes (genes linked to 2+ member diseases ‐ top 100 shown, download for all)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| DYNC1H1 | 12 / 23 | Amyotrophic lateral sclerosis, Charcot-marie-tooth disease, Congenital pes cavus, Dejerine-sottas disease and 8 more |
| GARS1 | 12 / 23 | Charcot-marie-tooth disease, Charcot-Marie-Tooth disease type 2D, Congenital pes cavus, Dejerine-sottas disease and 8 more |
| NEFL | 12 / 23 | Amyotrophic lateral sclerosis, Charcot-marie-tooth disease, Charcot-Marie-Tooth disease type 2, Congenital pes cavus and 8 more |
| PLEKHG5 | 11 / 23 | Amyotrophic lateral sclerosis, Charcot-marie-tooth disease, Dejerine-sottas disease, Distal hereditary motor neuropathy and 7 more |
| TRPV4 | 10 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Distal hereditary motor neuropathy, Distal spinal muscular atrophy and 6 more |
| HSPB1 | 9 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Distal hereditary motor neuropathy, Distal spinal muscular atrophy and 5 more |
| HSPB8 | 9 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Distal hereditary motor neuropathy, Distal spinal muscular atrophy and 5 more |
| MPZ | 9 / 23 | Charcot-marie-tooth disease, Congenital pes cavus, Dejerine-sottas disease, Distal hereditary motor neuropathy and 5 more |
| SH3TC2 | 9 / 23 | Charcot-marie-tooth disease, Congenital pes cavus, Dejerine-sottas disease, Distal spinal muscular atrophy and 5 more |
| FIG4 | 8 / 23 | Amyotrophic lateral sclerosis, Charcot-marie-tooth disease, Dejerine-sottas disease, Distal hereditary motor neuropathy and 4 more |
| GJB1 | 8 / 23 | Charcot-marie-tooth disease, Charcot-marie-tooth disease, x-linked, Congenital pes cavus, Dejerine-sottas disease and 4 more |
| MFN2 | 8 / 23 | Amyotrophic lateral sclerosis, Charcot-marie-tooth disease, Dejerine-sottas disease, Hereditary motor and sensory neuropathies and 4 more |
| PDK3 | 8 / 23 | Charcot-marie-tooth disease, Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-marie-tooth disease, x-linked, Dejerine-sottas disease and 4 more |
| SBF1 | 8 / 23 | Charcot-marie-tooth disease, Charcot-Marie-Tooth disease type 4B3, Charcot-marie-tooth disease, x-linked, Dejerine-sottas disease and 4 more |
| AARS1 | 7 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Distal spinal muscular atrophy, Hereditary motor and sensory neuropathies and 3 more |
| AIFM1 | 7 / 23 | Charcot-marie-tooth disease, Charcot-marie-tooth disease, x-linked, Dejerine-sottas disease, Hereditary motor and sensory neuropathies and 3 more |
| GDAP1 | 7 / 23 | Charcot-marie-tooth disease, Congenital pes cavus, Dejerine-sottas disease, Hereditary motor and sensory neuropathies and 3 more |
| KIF1B | 7 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy and 3 more |
| LRSAM1 | 7 / 23 | Charcot-marie-tooth disease, Charcot-Marie-Tooth disease axonal type 2P, Dejerine-sottas disease, Hereditary motor and sensory neuropathies and 3 more |
| MARS1 | 7 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Distal spinal muscular atrophy, Hereditary motor and sensory neuropathies and 3 more |
| PMP22 | 7 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Distal spinal muscular atrophy, Hereditary motor and sensory neuropathies and 3 more |
| PRPS1 | 7 / 23 | Charcot-marie-tooth disease, Charcot-marie-tooth disease, x-linked, Dejerine-sottas disease, Hereditary motor and sensory neuropathies and 3 more |
| PRX | 7 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Distal spinal muscular atrophy, Hereditary motor and sensory neuropathies and 3 more |
| VCP | 7 / 23 | Amyotrophic lateral sclerosis, Charcot-marie-tooth disease, Dejerine-sottas disease, Hereditary motor and sensory neuropathies and 3 more |
| COX6A1 | 6 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy and 2 more |
| DCTN1 | 6 / 23 | Amyotrophic lateral sclerosis, Charcot-marie-tooth disease, Distal hereditary motor neuropathy, Distal spinal muscular atrophy and 2 more |
| DHTKD1 | 6 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy and 2 more |
| EGR2 | 6 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy and 2 more |
| FGD4 | 6 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy and 2 more |
| GNB4 | 6 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy and 2 more |
| HK1 | 6 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy and 2 more |
| IGHMBP2 | 6 / 23 | Charcot-marie-tooth disease, Distal hereditary motor neuropathy, Distal spinal muscular atrophy, Hereditary motor and sensory neuropathies and 2 more |
| INF2 | 6 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy and 2 more |
| JPH1 | 6 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy and 2 more |
| KARS1 | 6 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy and 2 more |
| MME | 6 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy and 2 more |
| NDRG1 | 6 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy and 2 more |
| SETX | 6 / 23 | Amyotrophic lateral sclerosis, Charcot-marie-tooth disease, Distal hereditary motor neuropathy, Distal spinal muscular atrophy and 2 more |
| SLC12A6 | 6 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy and 2 more |
| SURF1 | 6 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy and 2 more |
| TRIM2 | 6 / 23 | Charcot-marie-tooth disease, Dejerine-sottas disease, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy and 2 more |
| DNAJB2 | 5 / 23 | Charcot-marie-tooth disease, Charcot-marie-tooth disease, x-linked, Distal hereditary motor neuropathy, neuronopathy, distal hereditary motor, autosomal recessive 5 and 1 more |
| HSPB3 | 5 / 23 | Charcot-marie-tooth disease, Distal hereditary motor neuropathy, Distal spinal muscular atrophy, Hereditary motor and sensory neuropathies and 1 more |
| SIGMAR1 | 5 / 23 | Amyotrophic lateral sclerosis, Charcot-marie-tooth disease, Distal hereditary motor neuropathy, Distal spinal muscular atrophy and 1 more |
| ATP7A | 4 / 23 | Charcot-marie-tooth disease, Distal hereditary motor neuropathy, Hereditary motor and sensory neuropathies, Spinal muscular atrophy |
| BICD2 | 4 / 23 | Amyotrophic lateral sclerosis, Charcot-marie-tooth disease, Distal hereditary motor neuropathy, Spinal muscular atrophy |
| BSCL2 | 4 / 23 | Charcot-marie-tooth disease, Distal hereditary motor neuropathy, Distal spinal muscular atrophy, Hereditary motor and sensory neuropathies |
| DRP2 | 4 / 23 | Charcot-marie-tooth disease, Charcot-marie-tooth disease, x-linked, Hereditary motor and sensory neuropathies, X-linked hereditary motor and sensory neuropathy |
| FBXO38 | 4 / 23 | Charcot-marie-tooth disease, Distal hereditary motor neuropathy, Distal spinal muscular atrophy, Spinal muscular atrophy |
| MORC2 | 4 / 23 | Charcot-marie-tooth disease, Distal hereditary motor neuropathy, Distal spinal muscular atrophy, Hereditary motor and sensory neuropathies |
| NEFH | 4 / 23 | Amyotrophic lateral sclerosis, Charcot-marie-tooth disease, Hereditary motor and sensory neuropathies, Motor neuron disease |
| SLC5A7 | 4 / 23 | Charcot-marie-tooth disease, Distal hereditary motor neuropathy, Distal spinal muscular atrophy, Hereditary motor and sensory neuropathies |
| VRK1 | 4 / 23 | Amyotrophic lateral sclerosis, Distal hereditary motor neuropathy, Distal spinal muscular atrophy, Spinal muscular atrophy |
| BAG3 | 3 / 23 | Charcot-marie-tooth disease, Distal hereditary motor neuropathy, Distal spinal muscular atrophy |
| KIF5A | 3 / 23 | Amyotrophic lateral sclerosis, Charcot-marie-tooth disease, Hereditary motor and sensory neuropathies |
| LITAF | 3 / 23 | Charcot-marie-tooth disease, Distal spinal muscular atrophy, Hereditary motor and sensory neuropathies |
| LMNA | 3 / 23 | Charcot-marie-tooth disease, Distal hereditary motor neuropathy, Hereditary motor and sensory neuropathies |
| RAB7A | 3 / 23 | Charcot-marie-tooth disease, Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathies |
| REEP1 | 3 / 23 | Charcot-marie-tooth disease, Distal hereditary motor neuropathy, Spinal muscular atrophy |
| WARS1 | 3 / 23 | Charcot-marie-tooth disease, Distal hereditary motor neuropathy, Distal spinal muscular atrophy |
| ALS2 | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| ARHGEF10 | 2 / 23 | Charcot-marie-tooth disease, Spinal muscular atrophy |
| BCL2L1 | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| BSG | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| CALB2 | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| CASP1 | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| CD68 | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| CD7 | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| CHCHD10 | 2 / 23 | Amyotrophic lateral sclerosis, Spinal muscular atrophy |
| CLU | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| CNTF | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| CREBBP | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| CST3 | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| CTSD | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| DBX1 | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| DPP6 | 2 / 23 | Amyotrophic lateral sclerosis, Spinal muscular atrophy |
| DST | 2 / 23 | Charcot-marie-tooth disease, Distal spinal muscular atrophy |
| ETFDH | 2 / 23 | Distal spinal muscular atrophy, multiple acyl-CoA dehydrogenase deficiency |
| FGF6 | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| FMO1 | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| FOS | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| FUS | 2 / 23 | Amyotrophic lateral sclerosis, Distal spinal muscular atrophy |
| GABRA1 | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| GBX2 | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| GDI1 | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| GFAP | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| GRIA3 | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| GSX2 | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| HARS1 | 2 / 23 | Charcot-marie-tooth disease, Congenital pes cavus |
| HOXD10 | 2 / 23 | Amyotrophic lateral sclerosis, Charcot-marie-tooth disease |
| HSF1 | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| IFRD1 | 2 / 23 | Amyotrophic lateral sclerosis, Charcot-marie-tooth disease |
| INA | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| JAK3 | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| JUND | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| KIF3C | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| LAMA2 | 2 / 23 | Amyotrophic lateral sclerosis, Charcot-marie-tooth disease |
| LAT | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| LDLR | 2 / 23 | Amyotrophic lateral sclerosis, Motor neuron disease |
| LRRC8C | 2 / 23 | Amyotrophic lateral sclerosis, Telangiectasia–intellectual disability–microcephaly–metaphyseal dysplasia–eye abnormalities–short stature 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 ⇵ |
|---|---|---|---|---|---|
| Amyotrophic lateral sclerosis | KEGG | 46 / 368 | 3.1× | 1.07e-11 | 1.90e-9 ✓ sig. |
| Pathways of neurodegeneration - multiple diseases | KEGG | 43 / 480 | 2.2× | 1.09e-6 | 5.27e-5 ✓ sig. |
| Cytosolic tRNA aminoacylation | Reactome | 7 / 24 | 7.1× | 3.50e-5 | 9.50e-4 ✓ sig. |
| EGR2 and SOX10-mediated initiation of Schwann cell myelination | Reactome | 6 / 20 | 7.3× | 1.09e-4 | 2.40e-3 ✓ sig. |
| Apoptosis | KEGG | 16 / 137 | 2.9× | 1.50e-4 | 3.12e-3 ✓ sig. |
| Detoxification of Reactive Oxygen Species | Reactome | 7 / 34 | 5.0× | 3.81e-4 | 6.46e-3 ✓ sig. |
| Shigellosis | KEGG | 22 / 250 | 2.1× | 6.14e-4 | 9.37e-3 ✓ sig. |
| Chylomicron clearance | Reactome | 3 / 5 | 14.6× | 6.42e-4 | 9.70e-3 ✓ sig. |
| Transcriptional activation of mitochondrial biogenesis | Reactome | 8 / 51 | 3.8× | 1.01e-3 | 1.36e-2 ✓ sig. |
| Synthesis of 5-eicosatetraenoic acids | Reactome | 3 / 6 | 12.2× | 1.25e-3 | 1.60e-2 ✓ sig. |
| TRKA activation by NGF | Reactome | 2 / 2 | 24.4× | 1.67e-3 | 2.00e-2 ✓ sig. |
| phospho-PLA2 pathway | Reactome | 2 / 2 | 24.4× | 1.67e-3 | 2.00e-2 ✓ sig. |
| Highly sodium permeable postsynaptic acetylcholine nicotinic receptors | Reactome | 3 / 7 | 10.5× | 2.11e-3 | 2.38e-2 ✓ sig. |
| Cell adhesion molecules | KEGG | 15 / 160 | 2.3× | 2.37e-3 | 2.59e-2 ✓ sig. |
| Cholinergic synapse | KEGG | 12 / 115 | 2.5× | 2.61e-3 | 2.79e-2 ✓ sig. |
Enriched GO Terms (Biological Process, a second line of biological evidence)
| GO term ⇵ | GO ID ⇵ | Overlap genes ⇵ | Fold enrichment ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| nervous system development | GO:0007399 | 45 / 631 | 2.7× | 1.43e-9 | 3.10e-7 ✓ sig. |
| mitochondrion organization | GO:0007005 | 17 / 130 | 5.0× | 5.61e-8 | 7.47e-6 ✓ sig. |
| amyloid-beta clearance by cellular catabolic process | GO:0150094 | 5 / 8 | 23.7× | 6.50e-7 | 5.83e-5 ✓ sig. |
| cellular response to oxidative stress | GO:0034599 | 14 / 111 | 4.8× | 1.30e-6 | 1.02e-4 ✓ sig. |
| positive regulation of gene expression | GO:0010628 | 33 / 504 | 2.5× | 1.63e-6 | 1.23e-4 ✓ sig. |
| neurofilament cytoskeleton organization | GO:0060052 | 5 / 10 | 19.0× | 2.80e-6 | 1.89e-4 ✓ sig. |
| myelination | GO:0042552 | 11 / 73 | 5.7× | 3.07e-6 | 2.03e-4 ✓ sig. |
| regulation of neuron apoptotic process | GO:0043523 | 7 / 26 | 10.2× | 3.58e-6 | 2.30e-4 ✓ sig. |
| positive regulation of cholesterol efflux | GO:0010875 | 7 / 27 | 9.8× | 4.72e-6 | 2.87e-4 ✓ sig. |
| negative regulation of neuron apoptotic process | GO:0043524 | 16 / 160 | 3.8× | 5.22e-6 | 3.11e-4 ✓ sig. |
| neuron apoptotic process | GO:0051402 | 12 / 98 | 4.7× | 1.01e-5 | 5.26e-4 ✓ sig. |
| response to toxic substance | GO:0009636 | 11 / 83 | 5.0× | 1.10e-5 | 5.61e-4 ✓ sig. |
| postsynaptic intermediate filament cytoskeleton organization | GO:0099185 | 3 / 3 | 38.0× | 1.81e-5 | 8.31e-4 ✓ sig. |
| lactone catabolic process | GO:1901335 | 3 / 3 | 38.0× | 1.81e-5 | 8.31e-4 ✓ sig. |
| neuron cellular homeostasis | GO:0070050 | 7 / 33 | 8.1× | 1.98e-5 | 8.91e-4 ✓ sig. |