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 344

7 diseases · 20 shared-gene connections
7 Diseases
3 Unique genes
0.513 Avg. similarity score
Alpha thalassemia Most-connected disease (6 links)
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Disease Searched: Methemoglobinemia, alpha type 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 ⇵
Alpha thalassemia 6 6 3
Alpha thalassemia spectrum 6 6 2
Erythrocytosis, familial, 7 6 6 2
Hemoglobin barts fetalis syndrome 6 6 3
Methemoglobinemia, alpha type 6 6 2
Heinz body anemias, alpha 5 5 1
Hemoglobin h disease 5 5 3

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

Gene ⇵ Member diseases ⇵ Linked diseases
HBA1 7 / 7 Alpha thalassemia, Alpha thalassemia spectrum, Erythrocytosis, familial, 7, Heinz body anemias, alpha and 3 more
HBA2 6 / 7 Alpha thalassemia, Alpha thalassemia spectrum, Erythrocytosis, familial, 7, Hemoglobin barts fetalis syndrome and 2 more
ATRX 3 / 7 Alpha thalassemia, Hemoglobin barts fetalis syndrome, Hemoglobin h disease
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 ⇵
Erythrocytes take up oxygen and release carbon dioxide
HBA1, HBA2
 Reactome 2 / 9 890× 1.50e-6 5.25e-5 ✓ sig.
Scavenging of heme from plasma
HBA1, HBA2
 Reactome 2 / 13 616× 3.24e-6 1.02e-4 ✓ sig.
Erythrocytes take up carbon dioxide and release oxygen
HBA1, HBA2
 Reactome 2 / 13 616× 3.24e-6 1.02e-4 ✓ sig.
African trypanosomiasis
HBA1, HBA2
 KEGG 2 / 37 216× 2.77e-5 6.05e-4 ✓ sig.
Malaria
HBA1, HBA2
 KEGG 2 / 50 160× 5.08e-5 9.96e-4 ✓ sig.
Cell cycle
ATRX
 KEGG 1 / 158 25.3× 3.90e-2 1.23e-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 ⇵
nitric oxide transport
HBA1, HBA2
 GO:0030185 2 / 5 2,492× 1.72e-7 1.86e-5 ✓ sig.
carbon dioxide transport
HBA1, HBA2
 GO:0015670 2 / 13 958× 1.34e-6 1.02e-4 ✓ sig.
oxygen transport
HBA1, HBA2
 GO:0015671 2 / 17 733× 2.34e-6 1.60e-4 ✓ sig.
hydrogen peroxide catabolic process
HBA1, HBA2
 GO:0042744 2 / 21 593× 3.61e-6 2.27e-4 ✓ sig.
erythrocyte development
HBA1, HBA2
 GO:0048821 2 / 32 389× 8.51e-6 4.47e-4 ✓ sig.
response to hydrogen peroxide
HBA1, HBA2
 GO:0042542 2 / 39 319× 1.27e-5 6.12e-4 ✓ sig.
cellular oxidant detoxification
HBA1, HBA2
 GO:0098869 2 / 66 189× 3.68e-5 1.37e-3 ✓ sig.
post-embryonic forelimb morphogenesis
ATRX
 GO:0035128 1 / 2 3,115× 3.21e-4 6.71e-3 ✓ sig.
negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric
ATRX
 GO:1904908 1 / 2 3,115× 3.21e-4 6.71e-3 ✓ sig.
positive regulation of nuclear cell cycle DNA replication
ATRX
 GO:0010571 1 / 6 1,038× 9.63e-4 1.37e-2 ✓ sig.
meiotic spindle organization
ATRX
 GO:0000212 1 / 8 779× 1.28e-3 1.61e-2 ✓ sig.
chromosome organization involved in meiotic cell cycle
ATRX
 GO:0070192 1 / 8 779× 1.28e-3 1.61e-2 ✓ sig.
subtelomeric heterochromatin formation
ATRX
 GO:0031509 1 / 11 566× 1.76e-3 1.91e-2 ✓ sig.
protein localization to chromosome, telomeric region
ATRX
 GO:0070198 1 / 11 566× 1.76e-3 1.91e-2 ✓ sig.
cellular response to hydroxyurea
ATRX
 GO:0072711 1 / 11 566× 1.76e-3 1.91e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Alpha thalassemia Hemoglobin h disease 0.750 3 1.62e-12 1.71e-11 ✓ sig.
Alpha thalassemia Hemoglobin barts fetalis syndrome 0.750 3 1.62e-12 1.71e-11 ✓ sig.
Hemoglobin barts fetalis syndrome Hemoglobin h disease 0.750 3 1.62e-12 1.71e-11 ✓ sig.
Alpha thalassemia spectrum Methemoglobinemia, alpha type 0.667 2 8.34e-9 6.59e-8 ✓ sig.
Alpha thalassemia spectrum Erythrocytosis, familial, 7 0.667 2 8.34e-9 6.59e-8 ✓ sig.
Erythrocytosis, familial, 7 Methemoglobinemia, alpha type 0.667 2 8.34e-9 6.59e-8 ✓ sig.
Hemoglobin h disease Methemoglobinemia, alpha type 0.500 2 2.50e-8 1.87e-7 ✓ sig.
Hemoglobin barts fetalis syndrome Methemoglobinemia, alpha type 0.500 2 2.50e-8 1.87e-7 ✓ sig.
Erythrocytosis, familial, 7 Hemoglobin h disease 0.500 2 2.50e-8 1.87e-7 ✓ sig.
Erythrocytosis, familial, 7 Hemoglobin barts fetalis syndrome 0.500 2 2.50e-8 1.87e-7 ✓ sig.
Alpha thalassemia spectrum Hemoglobin h disease 0.500 2 2.50e-8 1.87e-7 ✓ sig.
Alpha thalassemia spectrum Hemoglobin barts fetalis syndrome 0.500 2 2.50e-8 1.87e-7 ✓ sig.
Alpha thalassemia Alpha thalassemia spectrum 0.500 2 2.50e-8 1.87e-7 ✓ sig.
Alpha thalassemia Erythrocytosis, familial, 7 0.500 2 2.50e-8 1.87e-7 ✓ sig.
Alpha thalassemia Methemoglobinemia, alpha type 0.500 2 2.50e-8 1.87e-7 ✓ sig.
Heinz body anemias, alpha Methemoglobinemia, alpha type 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Erythrocytosis, familial, 7 Heinz body anemias, alpha 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Alpha thalassemia spectrum Heinz body anemias, alpha 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Alpha thalassemia Heinz body anemias, alpha 0.250 1 1.94e-4 4.42e-4 ✓ sig.
Heinz body anemias, alpha Hemoglobin barts fetalis syndrome 0.250 1 1.94e-4 4.42e-4 ✓ sig.