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Cluster 571

5 diseases · 10 shared-gene connections

5 Diseases

1 Unique genes

0.500 Avg. similarity score

Autoimmune enteropathy and endocrinopathy Most-connected disease (4 links)

Significant edges only (q < 0.05) Spacing Colour by

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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.

Autoimmune enteropathy and endocrinopathy Candidiasis, familial, 7 Immunodeficiency 31b Immunodeficiency 31c, autosomal dominant Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Member diseases (most connected first ‐ the cluster's core)

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Autoimmune enteropathy and endocrinopathy	4	4	1
Candidiasis, familial, 7	4	4	1
Immunodeficiency 31b	4	4	1
Immunodeficiency 31c, autosomal dominant	4	4	1
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	4	4	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
STAT1	5 / 5	Autoimmune enteropathy and endocrinopathy, Candidiasis, familial, 7, Immunodeficiency 31b, Immunodeficiency 31c, autosomal dominant and 1 more

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 ⇵
Interleukin-9 signaling STAT1	Reactome	1 / 9	1,334×	7.49e-4	9.09e-3 ✓ sig.
Interleukin-21 signaling STAT1	Reactome	1 / 10	1,201×	8.33e-4	9.85e-3 ✓ sig.
Interleukin-27 signaling STAT1	Reactome	1 / 11	1,092×	9.16e-4	1.06e-2 ✓ sig.
Regulation of IFNG signaling STAT1	Reactome	1 / 11	1,092×	9.16e-4	1.06e-2 ✓ sig.
Interleukin-6 signaling STAT1	Reactome	1 / 11	1,092×	9.16e-4	1.06e-2 ✓ sig.
Interleukin-35 Signalling STAT1	Reactome	1 / 12	1,001×	9.99e-4	1.13e-2 ✓ sig.
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants STAT1	Reactome	1 / 12	1,001×	9.99e-4	1.13e-2 ✓ sig.
Signaling by PDGFRA extracellular domain mutants STAT1	Reactome	1 / 12	1,001×	9.99e-4	1.13e-2 ✓ sig.
NOTCH3 Intracellular Domain Regulates Transcription STAT1	Reactome	1 / 18	667×	1.50e-3	1.54e-2 ✓ sig.
Signaling by cytosolic FGFR1 fusion mutants STAT1	Reactome	1 / 18	667×	1.50e-3	1.54e-2 ✓ sig.
Regulation of IFNA signaling STAT1	Reactome	1 / 24	500×	2.00e-3	1.90e-2 ✓ sig.
Interleukin-20 family signaling STAT1	Reactome	1 / 25	480×	2.08e-3	1.96e-2 ✓ sig.
Downstream signal transduction STAT1	Reactome	1 / 29	414×	2.41e-3	2.19e-2 ✓ sig.
Signaling by SCF-KIT STAT1	Reactome	1 / 37	325×	3.08e-3	2.59e-2 ✓ sig.
Inflammatory bowel disease STAT1	KEGG	1 / 66	182×	5.50e-3	3.88e-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 ⇵
negative regulation of metanephric nephron tubule epithelial cell differentiation STAT1	GO:0072308	1 / 1	18,687×	5.35e-5	1.94e-3 ✓ sig.
negative regulation by virus of viral protein levels in host cell STAT1	GO:0046725	1 / 2	9,344×	1.07e-4	3.25e-3 ✓ sig.
negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis STAT1	GO:0003340	1 / 2	9,344×	1.07e-4	3.25e-3 ✓ sig.
renal tubule development STAT1	GO:0061326	1 / 3	6,229×	1.61e-4	4.34e-3 ✓ sig.
metanephric mesenchymal cell proliferation involved in metanephros development STAT1	GO:0072136	1 / 3	6,229×	1.61e-4	4.34e-3 ✓ sig.
metanephric mesenchymal cell differentiation STAT1	GO:0072162	1 / 5	3,737×	2.68e-4	6.25e-3 ✓ sig.
interleukin-27-mediated signaling pathway STAT1	GO:0070106	1 / 8	2,336×	4.28e-4	8.53e-3 ✓ sig.
interleukin-7-mediated signaling pathway STAT1	GO:0038111	1 / 8	2,336×	4.28e-4	8.53e-3 ✓ sig.
interleukin-9-mediated signaling pathway STAT1	GO:0038113	1 / 8	2,336×	4.28e-4	8.53e-3 ✓ sig.
response to interferon-beta STAT1	GO:0035456	1 / 11	1,699×	5.89e-4	1.06e-2 ✓ sig.
negative regulation of developmental process STAT1	GO:0051093	1 / 13	1,437×	6.96e-4	1.18e-2 ✓ sig.
type II interferon-mediated signaling pathway STAT1	GO:0060333	1 / 15	1,246×	8.03e-4	1.28e-2 ✓ sig.
positive regulation of mesenchymal cell proliferation STAT1	GO:0002053	1 / 26	719×	1.39e-3	1.75e-2 ✓ sig.
positive regulation of interferon-alpha production STAT1	GO:0032727	1 / 26	719×	1.39e-3	1.75e-2 ✓ sig.
cell surface receptor signaling pathway via STAT STAT1	GO:0097696	1 / 28	667×	1.50e-3	1.82e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Autoimmune enteropathy and endocrinopathy	Immunodeficiency 31b	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Autoimmune enteropathy and endocrinopathy	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Autoimmune enteropathy and endocrinopathy	Candidiasis, familial, 7	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Autoimmune enteropathy and endocrinopathy	Immunodeficiency 31c, autosomal dominant	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Candidiasis, familial, 7	Immunodeficiency 31b	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Candidiasis, familial, 7	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Candidiasis, familial, 7	Immunodeficiency 31c, autosomal dominant	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Immunodeficiency 31b	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Immunodeficiency 31b	Immunodeficiency 31c, autosomal dominant	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Immunodeficiency 31c, autosomal dominant	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	0.500	1	6.46e-5	1.98e-4 ✓ sig.

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