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Cluster 282

6 diseases · 10 shared-gene connections
6 Diseases
31 Unique genes
0.203 Avg. similarity score
Amblyopia Most-connected disease (4 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 ⇵
Amblyopia 4 4 25
Christianon syndrome 4 4 1
Christianson syndrome 4 4 1
Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment 4 4 1
Astigmatism 3 3 7
CNGB1-related retinopathy 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
SLC9A6 5 / 6 Amblyopia, Astigmatism, Christianon syndrome, Christianson syndrome and 1 more
CNGB1 2 / 6 Amblyopia, CNGB1-related retinopathy
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 ⇵
Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) Reactome 1 / 1 387× 2.58e-3 2.76e-2 ✓ sig.
Calcium signaling pathway KEGG 4 / 254 6.1× 3.92e-3 3.72e-2 ✓ sig.
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors Reactome 1 / 3 129× 7.72e-3 5.83e-2
TFAP2 (AP-2) family regulates transcription of other transcription factors Reactome 1 / 4 96.9× 1.03e-2 7.00e-2
Inflammatory bowel disease KEGG 2 / 66 11.7× 1.25e-2 7.80e-2
TFAP2 (AP-2) family regulates transcription of cell cycle factors Reactome 1 / 5 77.5× 1.28e-2 7.92e-2
Melanin biosynthesis Reactome 1 / 5 77.5× 1.28e-2 7.92e-2
TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation Reactome 1 / 5 77.5× 1.28e-2 7.92e-2
Assembly and cell surface presentation of NMDA receptors Reactome 1 / 6 64.6× 1.54e-2 8.84e-2
Switching of origins to a post-replicative state Reactome 1 / 6 64.6× 1.54e-2 8.84e-2
Leishmaniasis KEGG 2 / 78 9.9× 1.71e-2 9.46e-2
MyD88-independent TLR4 cascade Reactome 1 / 7 55.3× 1.79e-2 9.70e-2
cAMP signaling pathway KEGG 3 / 226 5.1× 2.01e-2 1.03e-1
Relaxin receptors Reactome 1 / 8 48.4× 2.05e-2 1.04e-1
Cardiac muscle contraction KEGG 2 / 87 8.9× 2.11e-2 1.06e-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 ⇵
detection of light stimulus involved in visual perception GO:0050908 3 / 24 75.4× 8.17e-6 4.45e-4 ✓ sig.
negative regulation of osteoclast differentiation GO:0045671 3 / 30 60.3× 1.63e-5 7.66e-4 ✓ sig.
visual perception GO:0007601 4 / 215 11.2× 4.20e-4 8.52e-3 ✓ sig.
calcium ion import across plasma membrane GO:0098703 2 / 28 43.1× 9.80e-4 1.49e-2 ✓ sig.
negative regulation of calcium-independent cell-cell adhesion GO:0051042 1 / 1 603× 1.66e-3 2.03e-2 ✓ sig.
regulation of granulocyte chemotaxis GO:0071622 1 / 1 603× 1.66e-3 2.03e-2 ✓ sig.
positive regulation of epinephrine secretion GO:0032812 1 / 1 603× 1.66e-3 2.03e-2 ✓ sig.
beta-catenin-TCF complex assembly GO:1904837 1 / 1 603× 1.66e-3 2.03e-2 ✓ sig.
developmental maturation GO:0021700 1 / 1 603× 1.66e-3 2.03e-2 ✓ sig.
induction of synaptic plasticity by chemical substance GO:0051915 1 / 1 603× 1.66e-3 2.03e-2 ✓ sig.
optic cup structural organization GO:0003409 1 / 1 603× 1.66e-3 2.03e-2 ✓ sig.
nitric oxide production involved in inflammatory response GO:0002537 1 / 1 603× 1.66e-3 2.03e-2 ✓ sig.
axon extension GO:0048675 2 / 37 32.6× 1.71e-3 2.07e-2 ✓ sig.
calcium ion transmembrane transport GO:0070588 3 / 149 12.1× 1.90e-3 2.20e-2 ✓ sig.
positive regulation of bone mineralization GO:0030501 2 / 42 28.7× 2.20e-3 2.39e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Christianon syndrome Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Christianon syndrome Christianson syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Christianson syndrome Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Astigmatism Christianon syndrome 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Astigmatism Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Astigmatism Christianson syndrome 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Amblyopia Christianon syndrome 0.038 1 1.62e-3 2.44e-3 ✓ sig.
Amblyopia Christianson syndrome 0.038 1 1.62e-3 2.44e-3 ✓ sig.
Amblyopia CNGB1-related retinopathy 0.038 1 1.62e-3 2.44e-3 ✓ sig.
Amblyopia Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment 0.038 1 1.62e-3 2.44e-3 ✓ sig.