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Cluster 317

7 diseases · 9 shared-gene connections
7 Diseases
12 Unique genes
0.236 Avg. similarity score
Adrenal insufficiency Most-connected disease (4 links)
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Disease Searched: Autoimmunity 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 ⇵
Adrenal insufficiency 4 4 2
Lymphopenia 4 4 3
46xy sex reversal 3 2 2 1
Autoimmunity 2 2 8
Disorder of sex development 2 2 3
Immunodeficiency 126, susceptibility to 2 2 1
Nephrotic syndrome 14 2 2 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
NR5A1 3 / 7 46xy sex reversal 3, Adrenal insufficiency, Disorder of sex development
PTCRA 3 / 7 Autoimmunity, Immunodeficiency 126, susceptibility to, Lymphopenia
SGPL1 3 / 7 Adrenal insufficiency, Lymphopenia, Nephrotic syndrome 14
GIMAP5 2 / 7 Autoimmunity, Lymphopenia
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 ⇵
Relaxin receptors Reactome 1 / 8 125× 7.97e-3 4.76e-2 ✓ sig.
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) Reactome 1 / 10 100× 9.95e-3 5.47e-2
Cushing syndrome KEGG 2 / 155 12.9× 1.00e-2 5.49e-2
Regulation of KIT signaling Reactome 1 / 14 71.5× 1.39e-2 6.72e-2
Transcriptional misregulation in cancer KEGG 2 / 198 10.1× 1.60e-2 7.33e-2
Transcriptional regulation of pluripotent stem cells Reactome 1 / 17 58.9× 1.69e-2 7.56e-2
RHO GTPases activate PKNs Reactome 1 / 20 50.0× 1.98e-2 8.29e-2
CTLA4 inhibitory signaling Reactome 1 / 21 47.7× 2.08e-2 8.54e-2
RHO GTPases activate PAKs Reactome 1 / 23 43.5× 2.28e-2 9.01e-2
SUMOylation of intracellular receptors Reactome 1 / 27 37.1× 2.67e-2 9.90e-2
Deactivation of the beta-catenin transactivating complex Reactome 1 / 42 23.8× 4.12e-2 1.28e-1
Sphingolipid de novo biosynthesis Reactome 1 / 43 23.3× 4.21e-2 1.29e-1
HDMs demethylate histones Reactome 1 / 50 20.0× 4.89e-2 1.41e-1
Nuclear Receptor transcription pathway Reactome 1 / 52 19.2× 5.08e-2 1.44e-1
Sphingolipid metabolism KEGG 1 / 54 18.5× 5.27e-2 1.47e-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 ⇵
luteinization GO:0001553 2 / 9 346× 1.36e-5 6.72e-4 ✓ sig.
Leydig cell differentiation GO:0033327 2 / 11 283× 2.07e-5 9.27e-4 ✓ sig.
female gonad development GO:0008585 2 / 27 115× 1.32e-4 3.70e-3 ✓ sig.
hormone-mediated signaling pathway GO:0009755 2 / 42 74.2× 3.21e-4 6.91e-3 ✓ sig.
primary sex determination GO:0007538 1 / 1 1,557× 6.42e-4 1.09e-2 ✓ sig.
beta-catenin-TCF complex assembly GO:1904837 1 / 1 1,557× 6.42e-4 1.09e-2 ✓ sig.
response to gonadotropin-releasing hormone GO:0097210 1 / 2 779× 1.28e-3 1.65e-2 ✓ sig.
negative regulation of Kit signaling pathway GO:1900235 1 / 2 779× 1.28e-3 1.65e-2 ✓ sig.
hemopoiesis GO:0030097 2 / 89 35.0× 1.44e-3 1.76e-2 ✓ sig.
negative regulation of female gonad development GO:2000195 1 / 3 519× 1.93e-3 2.04e-2 ✓ sig.
monocyte homeostasis GO:0035702 1 / 3 519× 1.93e-3 2.04e-2 ✓ sig.
intracellular amino acid homeostasis GO:0080144 1 / 3 519× 1.93e-3 2.04e-2 ✓ sig.
male gonad development GO:0008584 2 / 117 26.6× 2.46e-3 2.34e-2 ✓ sig.
oocyte growth GO:0001555 1 / 4 389× 2.57e-3 2.38e-2 ✓ sig.
myeloid cell development GO:0061515 1 / 5 311× 3.21e-3 2.66e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Autoimmunity Lymphopenia 0.200 2 7.00e-7 4.35e-6 ✓ sig.
46xy sex reversal 3 Adrenal insufficiency 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Adrenal insufficiency Nephrotic syndrome 14 0.333 1 1.29e-4 3.27e-4 ✓ sig.
46xy sex reversal 3 Disorder of sex development 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Immunodeficiency 126, susceptibility to Lymphopenia 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Lymphopenia Nephrotic syndrome 14 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Adrenal insufficiency Disorder of sex development 0.200 1 3.87e-4 7.33e-4 ✓ sig.
Adrenal insufficiency Lymphopenia 0.200 1 3.87e-4 7.33e-4 ✓ sig.
Autoimmunity Immunodeficiency 126, susceptibility to 0.111 1 5.17e-4 9.13e-4 ✓ sig.