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Cluster 132

10 diseases · 27 shared-gene connections
10 Diseases
11 Unique genes
0.396 Avg. similarity score
Anemia, x-linked Most-connected disease (7 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
GATA1 9 / 10 Anemia, x-linked, Congenital erythropoietic porphyria, Cutaneous porphyria, Dyserythropoietic anemia with abnormal platelets and neutropenia and 5 more
UROS 3 / 10 Congenital erythropoietic porphyria, Cutaneous porphyria, Porphyria
RUNX1 2 / 10 hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Transient myeloproliferative disorder
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 ⇵
Heme biosynthesis Reactome 8 / 14 624× 4.62e-23 6.22e-20 ✓ sig.
Porphyrin metabolism KEGG 8 / 46 190× 3.99e-18 2.37e-15 ✓ sig.
Biosynthesis of cofactors KEGG 8 / 154 56.7× 9.72e-14 2.51e-11 ✓ sig.
Metabolic pathways KEGG 8 / 1,563 5.6× 9.27e-6 3.15e-4 ✓ sig.
Glycine, serine and threonine metabolism KEGG 2 / 40 54.6× 5.84e-4 8.99e-3 ✓ sig.
RUNX1 regulates transcription of genes involved in differentiation of HSCs Reactome 2 / 69 31.6× 1.73e-3 2.05e-2 ✓ sig.
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function Reactome 2 / 97 22.5× 3.39e-3 3.36e-2 ✓ sig.
RUNX2 regulates genes involved in differentiation of myeloid cells Reactome 1 / 4 273× 3.66e-3 3.54e-2 ✓ sig.
RUNX1 regulates expression of components of tight junctions Reactome 1 / 5 218× 4.57e-3 4.13e-2 ✓ sig.
RUNX1 regulates transcription of genes involved in interleukin signaling Reactome 1 / 5 218× 4.57e-3 4.13e-2 ✓ sig.
RUNX1 regulates transcription of genes involved in differentiation of keratinocytes Reactome 1 / 6 182× 5.48e-3 4.65e-2 ✓ sig.
RUNX1 regulates transcription of genes involved in BCR signaling Reactome 1 / 6 182× 5.48e-3 4.65e-2 ✓ sig.
RUNX1 regulates estrogen receptor mediated transcription Reactome 1 / 6 182× 5.48e-3 4.65e-2 ✓ sig.
RUNX1 regulates transcription of genes involved in WNT signaling Reactome 1 / 6 182× 5.48e-3 4.65e-2 ✓ sig.
RUNX1 regulates transcription of genes involved in differentiation of myeloid cells Reactome 1 / 7 156× 6.40e-3 5.15e-2

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
heme B biosynthetic process GO:0006785 8 / 10 1,359× 2.02e-26 7.27e-23 ✓ sig.
protoporphyrinogen IX biosynthetic process GO:0006782 7 / 9 1,321× 7.53e-23 1.80e-19 ✓ sig.
heme O biosynthetic process GO:0048034 7 / 9 1,321× 7.53e-23 1.80e-19 ✓ sig.
heme A biosynthetic process GO:0006784 7 / 10 1,189× 2.51e-22 5.59e-19 ✓ sig.
heme biosynthetic process GO:0006783 8 / 27 503× 9.92e-22 1.99e-18 ✓ sig.
porphyrin-containing compound biosynthetic process GO:0006779 6 / 11 927× 3.61e-18 4.41e-15 ✓ sig.
tetrapyrrole biosynthetic process GO:0033014 5 / 5 1,699× 2.43e-17 2.66e-14 ✓ sig.
response to platinum ion GO:0070541 4 / 4 1,699× 6.50e-14 3.68e-11 ✓ sig.
hemoglobin biosynthetic process GO:0042541 3 / 6 849× 3.03e-9 5.96e-7 ✓ sig.
porphyrin-containing compound metabolic process GO:0006778 3 / 7 728× 5.30e-9 9.83e-7 ✓ sig.
erythrocyte differentiation GO:0030218 4 / 65 105× 4.32e-8 5.98e-6 ✓ sig.
erythrocyte development GO:0048821 3 / 32 159× 7.46e-7 6.54e-5 ✓ sig.
protoporphyrinogen IX metabolic process GO:0046501 2 / 3 1,133× 9.45e-7 7.93e-5 ✓ sig.
response to hypoxia GO:0001666 4 / 176 38.6× 2.38e-6 1.66e-4 ✓ sig.
response to herbicide GO:0009635 2 / 5 680× 3.15e-6 2.07e-4 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Congenital erythropoietic porphyria Cutaneous porphyria 0.667 2 8.44e-9 7.20e-8 ✓ sig.
Cutaneous porphyria Porphyria 0.182 2 3.80e-7 2.53e-6 ✓ sig.
Congenital erythropoietic porphyria Porphyria 0.182 2 3.80e-7 2.53e-6 ✓ sig.
Anemia, x-linked Thrombocytopenia with dyserythropoietic anemia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
GATA1-Related X-Linked Cytopenia Thrombocytopenia with dyserythropoietic anemia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Dyserythropoietic anemia with thrombocytopenia GATA1-Related X-Linked Cytopenia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Dyserythropoietic anemia with thrombocytopenia Thrombocytopenia with dyserythropoietic anemia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Dyserythropoietic anemia with abnormal platelets and neutropenia GATA1-Related X-Linked Cytopenia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Dyserythropoietic anemia with abnormal platelets and neutropenia Thrombocytopenia with dyserythropoietic anemia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Dyserythropoietic anemia with abnormal platelets and neutropenia Dyserythropoietic anemia with thrombocytopenia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Anemia, x-linked Dyserythropoietic anemia with thrombocytopenia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Anemia, x-linked Dyserythropoietic anemia with abnormal platelets and neutropenia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Anemia, x-linked GATA1-Related X-Linked Cytopenia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Dyserythropoietic anemia with abnormal platelets and neutropenia Transient myeloproliferative disorder 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Cutaneous porphyria Dyserythropoietic anemia with thrombocytopenia 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Thrombocytopenia with dyserythropoietic anemia Transient myeloproliferative disorder 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Dyserythropoietic anemia with thrombocytopenia Transient myeloproliferative disorder 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Anemia, x-linked Transient myeloproliferative disorder 0.333 1 1.30e-4 3.90e-4 ✓ sig.
hereditary thrombocytopenia and hematologic cancer predisposition syndrome Transient myeloproliferative disorder 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Congenital erythropoietic porphyria GATA1-Related X-Linked Cytopenia 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Anemia, x-linked Congenital erythropoietic porphyria 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Congenital erythropoietic porphyria Dyserythropoietic anemia with thrombocytopenia 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Congenital erythropoietic porphyria Thrombocytopenia with dyserythropoietic anemia 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Congenital erythropoietic porphyria Dyserythropoietic anemia with abnormal platelets and neutropenia 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Anemia, x-linked Cutaneous porphyria 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Cutaneous porphyria Dyserythropoietic anemia with abnormal platelets and neutropenia 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Cutaneous porphyria Thrombocytopenia with dyserythropoietic anemia 0.333 1 1.30e-4 3.90e-4 ✓ sig.