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Cluster 348

6 diseases · 9 shared-gene connections
6 Diseases
14 Unique genes
0.226 Avg. similarity score
Cerebral cortical atrophy 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 ⇵
Cerebral cortical atrophy 5 5 4
Caudate atrophy 3 3 1
Nasu-hakola disease 3 3 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 3 3 2
Paraplegia 2 2 5
Proximal spinal muscular atrophy 2 2 6

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

Gene ⇵ Member diseases ⇵ Linked diseases
TYROBP 4 / 6 Caudate atrophy, Cerebral cortical atrophy, Nasu-hakola disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
SPG7 3 / 6 Cerebral cortical atrophy, Paraplegia, Proximal spinal muscular atrophy
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 ⇵
Other semaphorin interactions Reactome 2 / 14 123× 1.14e-4 2.49e-3 ✓ sig.
DAP12 interactions Reactome 2 / 21 81.7× 2.62e-4 4.82e-3 ✓ sig.
DAP12 signaling Reactome 2 / 30 57.2× 5.39e-4 8.44e-3 ✓ sig.
snRNP Assembly Reactome 2 / 53 32.4× 1.68e-3 2.01e-2 ✓ sig.
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell Reactome 2 / 130 13.2× 9.72e-3 6.74e-2
Osteoclast differentiation KEGG 2 / 142 12.1× 1.15e-2 7.47e-2
Asparagine N-linked glycosylation Reactome 1 / 11 78.0× 1.28e-2 7.89e-2
Signal regulatory protein family interactions Reactome 1 / 12 71.5× 1.39e-2 8.31e-2
Mitochondrial tRNA aminoacylation Reactome 1 / 14 61.3× 1.62e-2 9.12e-2
Membrane binding and targetting of GAG proteins Reactome 1 / 14 61.3× 1.62e-2 9.12e-2
Processing of SMDT1 Reactome 1 / 16 53.6× 1.85e-2 9.85e-2
Elastic fibre formation Reactome 1 / 18 47.7× 2.08e-2 1.05e-1
Miscellaneous transport and binding events Reactome 1 / 25 34.3× 2.88e-2 1.26e-1
Budding and maturation of HIV virion Reactome 1 / 29 29.6× 3.33e-2 1.37e-1
Endosomal Sorting Complex Required For Transport (ESCRT) Reactome 1 / 32 26.8× 3.67e-2 1.44e-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 ⇵
DNA-templated transcription termination GO:0006353 3 / 13 308× 9.53e-8 1.16e-5 ✓ sig.
positive regulation of macrophage fusion GO:0034241 2 / 5 534× 5.21e-6 3.10e-4 ✓ sig.
microglial cell activation involved in immune response GO:0002282 2 / 5 534× 5.21e-6 3.10e-4 ✓ sig.
T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell GO:0002291 2 / 8 334× 1.46e-5 7.00e-4 ✓ sig.
nervous system development GO:0007399 5 / 631 10.6× 6.71e-5 2.24e-3 ✓ sig.
amyloid-beta clearance GO:0097242 2 / 17 157× 7.04e-5 2.33e-3 ✓ sig.
apoptotic cell clearance GO:0043277 2 / 22 121× 1.19e-4 3.46e-3 ✓ sig.
spliceosomal complex assembly GO:0000245 2 / 28 95.3× 1.95e-4 4.96e-3 ✓ sig.
spliceosomal snRNP assembly GO:0000387 2 / 29 92.1× 2.09e-4 5.21e-3 ✓ sig.
RNA splicing, via transesterification reactions GO:0000375 2 / 30 89.0× 2.24e-4 5.46e-3 ✓ sig.
response to axon injury GO:0048678 2 / 37 72.2× 3.42e-4 7.34e-3 ✓ sig.
pyroptotic inflammatory response GO:0070269 2 / 40 66.7× 4.00e-4 8.21e-3 ✓ sig.
semaphorin-plexin signaling pathway GO:0071526 2 / 43 62.1× 4.62e-4 9.08e-3 ✓ sig.
regulation of biological quality GO:0065008 2 / 45 59.3× 5.07e-4 9.66e-3 ✓ sig.
osteoclast differentiation GO:0030316 2 / 49 54.5× 6.01e-4 1.09e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Caudate atrophy Nasu-hakola disease 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Caudate atrophy Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Nasu-hakola disease Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Caudate atrophy Cerebral cortical atrophy 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Cerebral cortical atrophy Nasu-hakola disease 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Cerebral cortical atrophy Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 0.167 1 5.19e-4 1.04e-3 ✓ sig.
Cerebral cortical atrophy Paraplegia 0.111 1 1.30e-3 2.04e-3 ✓ sig.
Cerebral cortical atrophy Proximal spinal muscular atrophy 0.100 1 1.56e-3 2.36e-3 ✓ sig.
Paraplegia Proximal spinal muscular atrophy 0.091 1 1.95e-3 2.81e-3 ✓ sig.