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 133

10 diseases · 13 shared-gene connections
10 Diseases
22 Unique genes
0.197 Avg. similarity score
Normal pressure hydrocephalus Most-connected disease (5 links)
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Disease Searched: Lactic acidosis 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 ⇵
Normal pressure hydrocephalus 5 5 2
primary ciliary dyskinesia 4 4 9
Cerebelloparenchymal disorder 3 3 1
Lactic acidosis 3 3 1
Ptosis 3 3 5
Male infertility large polyploid spermatozoa 2 2 9
spermatogenic failure 19 2 2 1
spermatogenic failure 56 2 2 1
Young syndrome 1 1 1
spermatogenic failure 46 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
PMPCA 4 / 10 Cerebelloparenchymal disorder, Lactic acidosis, Normal pressure hydrocephalus, Ptosis
CFAP43 3 / 10 Normal pressure hydrocephalus, primary ciliary dyskinesia, spermatogenic failure 19
DNAH10 3 / 10 Male infertility large polyploid spermatozoa, primary ciliary dyskinesia, spermatogenic failure 56
CFAP221 2 / 10 primary ciliary dyskinesia, Young syndrome
DNAH8 2 / 10 Male infertility large polyploid spermatozoa, spermatogenic failure 46
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 ⇵
Motor proteins
DNAH10, DNAH8, DNAH1, DNAH7
 KEGG 4 / 194 11.3× 3.84e-4 6.74e-3 ✓ sig.
Huntington disease
DNAH10, DNAH8, DNAH1, DNAH7
 KEGG 4 / 308 7.1× 2.15e-3 2.50e-2 ✓ sig.
Amyotrophic lateral sclerosis
DNAH10, DNAH8, DNAH1, DNAH7
 KEGG 4 / 368 5.9× 4.09e-3 3.94e-2 ✓ sig.
Pathways of neurodegeneration - multiple diseases
DNAH10, DNAH8, DNAH1, DNAH7
 KEGG 4 / 480 4.5× 1.04e-2 7.27e-2
Processing of SMDT1
PMPCA
 Reactome 1 / 16 34.1× 2.89e-2 1.31e-1
Transcriptional activation of mitochondrial biogenesis
TWNK
 Reactome 1 / 51 10.7× 8.94e-2 2.40e-1
Intraflagellar transport
IFT74
 Reactome 1 / 54 10.1× 9.45e-2 2.47e-1
Lysine degradation
KMT2A
 KEGG 1 / 63 8.7× 1.09e-1 2.67e-1
RUNX1 regulates transcription of genes involved in differentiation of HSCs
KMT2A
 Reactome 1 / 69 7.9× 1.19e-1 2.80e-1
PKMTs methylate histone lysines
KMT2A
 Reactome 1 / 71 7.7× 1.22e-1 2.84e-1
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
KMT2A
 Reactome 1 / 97 5.6× 1.64e-1 3.32e-1
Spinocerebellar ataxia
TWNK
 KEGG 1 / 144 3.8× 2.33e-1 4.06e-1
Cushing syndrome
KMT2A
 KEGG 1 / 155 3.5× 2.49e-1 4.21e-1
Transcriptional misregulation in cancer
KMT2A
 KEGG 1 / 198 2.8× 3.07e-1 4.77e-1
Metabolic pathways
KMT2A
 KEGG 1 / 1,563 0.3× 9.54e-1 9.98e-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 ⇵
cilium movement involved in cell motility
DNAH10, DNAH8, CFAP46, DNAH1, DNAH7
 GO:0060294 5 / 27 157× 1.10e-10 3.17e-8 ✓ sig.
microtubule-based movement
DNAH10, DNHD1, DNAH8, DNAH1, DNAH7
 GO:0007018 5 / 87 48.8× 4.82e-8 6.63e-6 ✓ sig.
cilium movement
CFAP43, CFAP61, CFAP221, DNAH7
 GO:0003341 4 / 48 70.8× 2.71e-7 2.87e-5 ✓ sig.
cilium-dependent cell motility
DNAH8, DNAH1, DNAH7
 GO:0060285 3 / 12 212× 3.09e-7 3.22e-5 ✓ sig.
flagellated sperm motility
CFAP43, AKAP3, ARMC12, DNHD1, DNAH1
 GO:0030317 5 / 142 29.9× 5.60e-7 5.28e-5 ✓ sig.
cerebrospinal fluid circulation
CFAP43, CFAP221, DAW1
 GO:0090660 3 / 18 142× 1.14e-6 9.43e-5 ✓ sig.
sperm flagellum assembly
CFAP61, DNHD1, CFAP221
 GO:0120316 3 / 20 127× 1.59e-6 1.24e-4 ✓ sig.
epithelial cilium movement involved in extracellular fluid movement
SPEF2, DAW1, DNAH1
 GO:0003351 3 / 26 98.0× 3.62e-6 2.39e-4 ✓ sig.
sperm axoneme assembly
CFAP43, SPEF2, DNAH1
 GO:0007288 3 / 31 82.2× 6.23e-6 3.70e-4 ✓ sig.
mucociliary clearance
CFAP43, CFAP221
 GO:0120197 2 / 12 142× 8.67e-5 2.82e-3 ✓ sig.
cell projection organization
CFAP43, IFT74, CFAP221, CFAP46
 GO:0030030 4 / 214 15.9× 1.04e-4 3.22e-3 ✓ sig.
inner dynein arm assembly
DNAH1, DNAH7
 GO:0036159 2 / 18 94.4× 2.00e-4 5.22e-3 ✓ sig.
outer dynein arm assembly
DNAH8, DAW1
 GO:0036158 2 / 22 77.2× 3.01e-4 6.99e-3 ✓ sig.
motile cilium assembly
CFAP43, CFAP221
 GO:0044458 2 / 28 60.7× 4.91e-4 9.75e-3 ✓ sig.
establishment of localization in cell
CFAP43, CFAP221, DAW1
 GO:0051649 3 / 147 17.3× 6.58e-4 1.19e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Cerebelloparenchymal disorder Lactic acidosis 0.500 1 6.49e-5 2.33e-4 ✓ sig.
Cerebelloparenchymal disorder Normal pressure hydrocephalus 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Lactic acidosis Normal pressure hydrocephalus 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Normal pressure hydrocephalus spermatogenic failure 19 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Cerebelloparenchymal disorder Ptosis 0.167 1 3.25e-4 7.71e-4 ✓ sig.
Lactic acidosis Ptosis 0.167 1 3.25e-4 7.71e-4 ✓ sig.
Male infertility large polyploid spermatozoa spermatogenic failure 56 0.100 1 5.84e-4 1.16e-3 ✓ sig.
Male infertility large polyploid spermatozoa spermatogenic failure 46 0.100 1 5.84e-4 1.16e-3 ✓ sig.
primary ciliary dyskinesia spermatogenic failure 56 0.100 1 5.84e-4 1.16e-3 ✓ sig.
primary ciliary dyskinesia Young syndrome 0.100 1 5.84e-4 1.16e-3 ✓ sig.
primary ciliary dyskinesia spermatogenic failure 19 0.100 1 5.84e-4 1.16e-3 ✓ sig.
Normal pressure hydrocephalus Ptosis 0.143 1 6.49e-4 1.24e-3 ✓ sig.
Normal pressure hydrocephalus primary ciliary dyskinesia 0.091 1 1.17e-3 1.90e-3 ✓ sig.