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Cluster 519

5 diseases · 5 shared-gene connections
5 Diseases
6 Unique genes
0.229 Avg. similarity score
Microcytic anemia 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)

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

Gene ⇵ Member diseases ⇵ Linked diseases
LPIN2 3 / 5 Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia, Majeed syndrome, Microcytic anemia
CLPB 2 / 5 3-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia, Microcytic anemia
TMPRSS6 2 / 5 Iron-refractory iron deficiency anemia, Microcytic anemia
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 SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1) Reactome 1 / 1 2,002× 5.00e-4 6.67e-3 ✓ sig.
Metal ion SLC transporters Reactome 1 / 9 222× 4.49e-3 3.39e-2 ✓ sig.
Synthesis of PE Reactome 1 / 12 167× 5.98e-3 4.10e-2 ✓ sig.
Triglyceride biosynthesis Reactome 1 / 13 154× 6.48e-3 4.32e-2 ✓ sig.
Depolymerisation of the Nuclear Lamina Reactome 1 / 15 133× 7.47e-3 4.73e-2 ✓ sig.
Cytosolic tRNA aminoacylation Reactome 1 / 24 83.4× 1.19e-2 6.32e-2
Synthesis of PC Reactome 1 / 28 71.5× 1.39e-2 6.94e-2
Iron uptake and transport Reactome 1 / 28 71.5× 1.39e-2 6.94e-2
Ferroptosis KEGG 1 / 42 47.7× 2.08e-2 8.77e-2
Collagen degradation Reactome 1 / 52 38.5× 2.57e-2 9.90e-2
Mineral absorption KEGG 1 / 61 32.8× 3.01e-2 1.08e-1
Longevity regulating pathway - multiple species KEGG 1 / 62 32.3× 3.06e-2 1.10e-1
Glycerolipid metabolism KEGG 1 / 64 31.3× 3.16e-2 1.11e-1
Aminoacyl-tRNA biosynthesis KEGG 1 / 66 30.3× 3.25e-2 1.13e-1
Degradation of the extracellular matrix Reactome 1 / 70 28.6× 3.45e-2 1.17e-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 ⇵
multicellular organismal-level iron ion homeostasis GO:0060586 2 / 28 222× 3.24e-5 1.33e-3 ✓ sig.
intracellular iron ion homeostasis GO:0006879 2 / 71 87.7× 2.11e-4 5.29e-3 ✓ sig.
vanadium ion transport GO:0015676 1 / 1 3,115× 3.21e-4 7.04e-3 ✓ sig.
lead ion transport GO:0015692 1 / 1 3,115× 3.21e-4 7.04e-3 ✓ sig.
nickel cation transmembrane transport GO:0035444 1 / 1 3,115× 3.21e-4 7.04e-3 ✓ sig.
NK T cell lineage commitment GO:0002364 1 / 1 3,115× 3.21e-4 7.04e-3 ✓ sig.
glutaminyl-tRNA aminoacylation GO:0006425 1 / 2 1,557× 6.42e-4 1.11e-2 ✓ sig.
leucyl-tRNA aminoacylation GO:0006429 1 / 2 1,557× 6.42e-4 1.11e-2 ✓ sig.
CD8-positive, alpha-beta T cell lineage commitment GO:0043375 1 / 2 1,557× 6.42e-4 1.11e-2 ✓ sig.
CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment GO:0002362 1 / 2 1,557× 6.42e-4 1.11e-2 ✓ sig.
nickel cation transport GO:0015675 1 / 2 1,557× 6.42e-4 1.11e-2 ✓ sig.
CD4-positive, alpha-beta T cell lineage commitment GO:0043373 1 / 2 1,557× 6.42e-4 1.11e-2 ✓ sig.
regulation of positive thymic T cell selection GO:1902232 1 / 2 1,557× 6.42e-4 1.11e-2 ✓ sig.
detection of oxygen GO:0003032 1 / 3 1,038× 9.63e-4 1.42e-2 ✓ sig.
iron import into cell GO:0033212 1 / 3 1,038× 9.63e-4 1.42e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia Majeed syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
3-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia Microcytic anemia 0.167 1 3.23e-4 6.41e-4 ✓ sig.
Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia Microcytic anemia 0.167 1 3.23e-4 6.41e-4 ✓ sig.
Majeed syndrome Microcytic anemia 0.167 1 3.23e-4 6.41e-4 ✓ sig.
Iron-refractory iron deficiency anemia Microcytic anemia 0.143 1 6.46e-4 1.09e-3 ✓ sig.