Disease Clusters | GeDiPNet

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Cluster 611

5 diseases · 7 shared-gene connections

5 Diseases

4 Unique genes

0.333 Avg. similarity score

Growth hormone insensitivity syndrome Most-connected disease (4 links)

Significant edges only (q < 0.05) Spacing Colour by

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.

Growth hormone insensitivity syndrome Colonic disease Growth hormone insensitivity, partial Increased responsiveness to growth hormone Growth hormone insensitivity syndrome with immune dysregulation

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Growth hormone insensitivity syndrome	4	4	2
Colonic disease	3	3	1
Growth hormone insensitivity, partial	3	3	2
Increased responsiveness to growth hormone	3	3	1
Growth hormone insensitivity syndrome with immune dysregulation	1	1	2

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

Gene ⇵	Member diseases ⇵	Linked diseases
GHR	4 / 5	Colonic disease, Growth hormone insensitivity syndrome, Growth hormone insensitivity, partial, Increased responsiveness to growth hormone
STAT5B	2 / 5	Growth hormone insensitivity syndrome, Growth hormone insensitivity syndrome with immune dysregulation

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 ⇵
Growth hormone synthesis, secretion and action GHR, GHSR, STAT5B	KEGG	3 / 122	73.8×	4.06e-6	1.38e-4 ✓ sig.
Growth hormone receptor signaling GHR, STAT5B	Reactome	2 / 14	429×	7.56e-6	2.32e-4 ✓ sig.
Hormone signaling GHR, GHSR, STAT5B	KEGG	3 / 219	41.1×	2.36e-5	5.98e-4 ✓ sig.
Signaling by Leptin STAT5B	Reactome	1 / 2	1,501×	6.66e-4	8.31e-3 ✓ sig.
JAK-STAT signaling pathway GHR, STAT5B	KEGG	2 / 168	35.7×	1.15e-3	1.26e-2 ✓ sig.
Interleukin-9 signaling STAT5B	Reactome	1 / 9	334×	2.99e-3	2.54e-2 ✓ sig.
Interleukin-21 signaling STAT5B	Reactome	1 / 10	300×	3.33e-3	2.74e-2 ✓ sig.
Prolactin receptor signaling GHR	Reactome	1 / 12	250×	3.99e-3	3.12e-2 ✓ sig.
Interleukin-2 signaling STAT5B	Reactome	1 / 12	250×	3.99e-3	3.12e-2 ✓ sig.
Interleukin-15 signaling STAT5B	Reactome	1 / 13	231×	4.32e-3	3.30e-2 ✓ sig.
Neuroactive ligand-receptor interaction GHR, GHSR	KEGG	2 / 370	16.2×	5.45e-3	3.87e-2 ✓ sig.
Signaling by cytosolic FGFR1 fusion mutants STAT5B	Reactome	1 / 18	167×	5.98e-3	4.10e-2 ✓ sig.
Interleukin-3, Interleukin-5 and GM-CSF signaling STAT5B	Reactome	1 / 23	131×	7.64e-3	4.80e-2 ✓ sig.
Interleukin-20 family signaling STAT5B	Reactome	1 / 25	120×	8.30e-3	5.06e-2
Downstream signal transduction STAT5B	Reactome	1 / 29	104×	9.62e-3	5.56e-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 ⇵
positive regulation of multicellular organism growth GHR, GHSR, STAT5B	GO:0040018	3 / 34	412×	2.20e-8	3.50e-6 ✓ sig.
cellular response to hormone stimulus GHR, GHSR, STAT5B	GO:0032870	3 / 48	292×	6.35e-8	8.69e-6 ✓ sig.
response to estradiol GHR, GHSR, STAT5B	GO:0032355	3 / 84	167×	3.49e-7	3.61e-5 ✓ sig.
taurine metabolic process GHR, STAT5B	GO:0019530	2 / 6	1,557×	5.15e-7	5.00e-5 ✓ sig.
response to growth hormone GHR, GHSR	GO:0060416	2 / 14	667×	3.12e-6	2.17e-4 ✓ sig.
growth hormone receptor signaling pathway via JAK-STAT GHR, STAT5B	GO:0060397	2 / 15	623×	3.61e-6	2.43e-4 ✓ sig.
regulation of multicellular organism growth GHR, STAT5B	GO:0040014	2 / 26	359×	1.11e-5	5.93e-4 ✓ sig.
response to food GHR, GHSR	GO:0032094	2 / 33	283×	1.81e-5	8.59e-4 ✓ sig.
insulin-like growth factor receptor signaling pathway GHR, GHSR	GO:0048009	2 / 33	283×	1.81e-5	8.59e-4 ✓ sig.
hormone-mediated signaling pathway GHR, GHSR	GO:0009755	2 / 42	222×	2.95e-5	1.24e-3 ✓ sig.
response to peptide hormone GHR, STAT5B	GO:0043434	2 / 50	187×	4.20e-5	1.61e-3 ✓ sig.
response to hormone GHR, GHSR	GO:0009725	2 / 55	170×	5.08e-5	1.87e-3 ✓ sig.
cell surface receptor signaling pathway via JAK-STAT GHR, STAT5B	GO:0007259	2 / 67	139×	7.56e-5	2.51e-3 ✓ sig.
female pregnancy GHSR, STAT5B	GO:0007565	2 / 80	117×	1.08e-4	3.27e-3 ✓ sig.
cellular response to insulin stimulus GHR, GHSR	GO:0032869	2 / 102	91.6×	1.76e-4	4.63e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Colonic disease	Increased responsiveness to growth hormone	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Colonic disease	Growth hormone insensitivity, partial	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Colonic disease	Growth hormone insensitivity syndrome	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Growth hormone insensitivity syndrome	Increased responsiveness to growth hormone	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Growth hormone insensitivity, partial	Increased responsiveness to growth hormone	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Growth hormone insensitivity syndrome	Growth hormone insensitivity, partial	0.250	1	2.58e-4	5.38e-4 ✓ sig.
Growth hormone insensitivity syndrome	Growth hormone insensitivity syndrome with immune dysregulation	0.250	1	2.58e-4	5.38e-4 ✓ sig.

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