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Cluster 211

8 diseases · 12 shared-gene connections
8 Diseases
74 Unique genes
0.095 Avg. similarity score
Congenital neutropenia Most-connected disease (6 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)

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

Gene ⇵ Member diseases ⇵ Linked diseases
CSF3R 4 / 8 Congenital neutropenia, Neutropenia, Neutrophilic leukemia, Severe congenital neutropenia
CLPB 3 / 8 Congenital neutropenia, Neutropenia, Severe congenital neutropenia
ELANE 3 / 8 Congenital neutropenia, Neutropenia, Severe congenital neutropenia
GFI1 3 / 8 Congenital neutropenia, Neutropenia, nonimmune chronic idiopathic, adult, Severe congenital neutropenia
JAGN1 3 / 8 Congenital neutropenia, Neutropenia, Severe congenital neutropenia
RBSN 3 / 8 Congenital myelofibrosis with anemia, Congenital neutropenia, Severe congenital neutropenia
SEC61A1 3 / 8 Congenital neutropenia, Neutropenia, Severe congenital neutropenia
SRP19 3 / 8 Congenital neutropenia, Neutropenia, Severe congenital neutropenia
SRP68 3 / 8 Congenital neutropenia, Neutropenia, Severe congenital neutropenia
FCHO1 2 / 8 Congenital neutropenia, immunodeficiency 76
G6PC3 2 / 8 Congenital neutropenia, Severe congenital neutropenia
HAX1 2 / 8 Congenital neutropenia, Severe congenital neutropenia
SMARCD2 2 / 8 Neutropenia, Severe congenital neutropenia
SRP54 2 / 8 Congenital neutropenia, Severe congenital neutropenia
TCIRG1 2 / 8 Congenital neutropenia, Severe congenital neutropenia
TPMT 2 / 8 Neutropenia, Thiopurine s-methyltransferase deficiency
VPS45 2 / 8 Congenital neutropenia, Severe congenital neutropenia
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 ⇵
Protein export KEGG 5 / 31 26.2× 1.16e-6 5.56e-5 ✓ sig.
Coronavirus disease - COVID-19 KEGG 10 / 238 6.8× 1.83e-6 8.15e-5 ✓ sig.
Malaria KEGG 5 / 50 16.2× 1.32e-5 4.23e-4 ✓ sig.
Cytokine-cytokine receptor interaction KEGG 10 / 298 5.4× 1.34e-5 4.29e-4 ✓ sig.
Rheumatoid arthritis KEGG 6 / 95 10.3× 2.51e-5 7.19e-4 ✓ sig.
Tuberculosis KEGG 7 / 181 6.3× 1.21e-4 2.61e-3 ✓ sig.
Interleukin-10 signaling Reactome 4 / 47 13.8× 1.94e-4 3.82e-3 ✓ sig.
Osteoclast differentiation KEGG 6 / 142 6.9× 2.35e-4 4.44e-3 ✓ sig.
Hypertrophic cardiomyopathy KEGG 5 / 99 8.2× 3.53e-4 6.09e-3 ✓ sig.
Hematopoietic cell lineage KEGG 5 / 100 8.1× 3.70e-4 6.32e-3 ✓ sig.
Dilated cardiomyopathy KEGG 5 / 105 7.7× 4.63e-4 7.51e-3 ✓ sig.
Influenza A KEGG 6 / 173 5.6× 6.75e-4 1.01e-2 ✓ sig.
Antifolate resistance KEGG 3 / 30 16.2× 8.09e-4 1.16e-2 ✓ sig.
Leishmaniasis KEGG 4 / 78 8.3× 1.34e-3 1.69e-2 ✓ sig.
Drug metabolism - other enzymes KEGG 4 / 81 8.0× 1.54e-3 1.89e-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 ⇵
SRP-dependent cotranslational protein targeting to membrane GO:0006614 5 / 10 126× 2.11e-10 5.58e-8 ✓ sig.
granulocyte differentiation GO:0030851 4 / 15 67.3× 2.99e-7 3.04e-5 ✓ sig.
granulocyte colony-stimulating factor signaling pathway GO:0038158 3 / 5 152× 5.93e-7 5.40e-5 ✓ sig.
neutrophil chemotaxis GO:0030593 5 / 55 23.0× 2.53e-6 1.74e-4 ✓ sig.
defense response GO:0006952 7 / 163 10.8× 3.72e-6 2.37e-4 ✓ sig.
cotranslational protein targeting to membrane GO:0006613 3 / 10 75.8× 7.01e-6 3.93e-4 ✓ sig.
SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition GO:0006617 3 / 14 54.1× 2.10e-5 9.35e-4 ✓ sig.
protein targeting to ER GO:0045047 3 / 15 50.5× 2.62e-5 1.10e-3 ✓ sig.
response to hypoxia GO:0001666 6 / 176 8.6× 6.99e-5 2.32e-3 ✓ sig.
positive regulation of macrophage derived foam cell differentiation GO:0010744 3 / 21 36.1× 7.53e-5 2.45e-3 ✓ sig.
inflammatory response GO:0006954 9 / 467 4.9× 9.22e-5 2.84e-3 ✓ sig.
positive regulation of fever generation GO:0031622 2 / 4 126× 9.23e-5 2.85e-3 ✓ sig.
cellular response to lipopolysaccharide GO:0071222 6 / 187 8.1× 9.76e-5 2.97e-3 ✓ sig.
cell morphogenesis GO:0000902 5 / 119 10.6× 1.09e-4 3.23e-3 ✓ sig.
cardiac muscle cell proliferation GO:0060038 3 / 28 27.1× 1.82e-4 4.73e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Congenital neutropenia Severe congenital neutropenia 0.538 14 4.52e-40 2.00e-38 ✓ sig.
Neutropenia Severe congenital neutropenia 0.111 8 6.49e-15 9.74e-14 ✓ sig.
Congenital neutropenia Neutropenia 0.103 7 1.23e-13 1.67e-12 ✓ sig.
Congenital myelofibrosis with anemia Congenital neutropenia 0.056 1 1.10e-3 1.81e-3 ✓ sig.
Congenital neutropenia Neutrophilic leukemia 0.056 1 1.10e-3 1.81e-3 ✓ sig.
Congenital neutropenia Neutropenia, nonimmune chronic idiopathic, adult 0.056 1 1.10e-3 1.81e-3 ✓ sig.
Congenital neutropenia immunodeficiency 76 0.056 1 1.10e-3 1.81e-3 ✓ sig.
Congenital myelofibrosis with anemia Severe congenital neutropenia 0.043 1 1.43e-3 2.21e-3 ✓ sig.
Neutropenia, nonimmune chronic idiopathic, adult Severe congenital neutropenia 0.043 1 1.43e-3 2.21e-3 ✓ sig.
Neutrophilic leukemia Severe congenital neutropenia 0.043 1 1.43e-3 2.21e-3 ✓ sig.
Neutropenia Neutrophilic leukemia 0.017 1 3.70e-3 4.73e-3 ✓ sig.
Neutropenia Thiopurine s-methyltransferase deficiency 0.017 1 3.70e-3 4.73e-3 ✓ sig.