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Cluster 235

7 diseases · 11 shared-gene connections

7 Diseases

7 Unique genes

0.278 Avg. similarity score

Acromegaly Most-connected disease (5 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.

Acromegaly Growth hormone-secreting pituitary adenoma Pituitary gigantism Chromosome xq26.3 duplication syndrome X-linked acrogigantism due to xq26 microduplication Pituitary adenoma

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Acromegaly	5	5	2
Growth hormone-secreting pituitary adenoma	4	4	5
Pituitary gigantism	4	4	2
Chromosome xq26.3 duplication syndrome	3	3	1
X-linked acrogigantism due to xq26 microduplication	3	3	1
Pituitary adenoma	2	2	2
multiple endocrine neoplasia type 1	1	1	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
AIP	4 / 7	Acromegaly, Growth hormone-secreting pituitary adenoma, Pituitary adenoma, Pituitary gigantism
GPR101	4 / 7	Acromegaly, Chromosome xq26.3 duplication syndrome, Growth hormone-secreting pituitary adenoma, X-linked acrogigantism due to xq26 microduplication
MEN1	2 / 7	multiple endocrine neoplasia type 1, Pituitary gigantism

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 ⇵
Prolactin receptor signaling GH1, PRL	Reactome	2 / 12	286×	1.92e-5	5.78e-4 ✓ sig.
Growth hormone receptor signaling GH1, PRL	Reactome	2 / 14	245×	2.64e-5	7.49e-4 ✓ sig.
Cushing syndrome AIP, GNAS, MEN1	KEGG	3 / 155	33.2×	7.10e-5	1.70e-3 ✓ sig.
Hormone signaling GH1, GNAS, PRL	KEGG	3 / 219	23.5×	1.98e-4	3.88e-3 ✓ sig.
Growth hormone synthesis, secretion and action GH1, GNAS	KEGG	2 / 122	28.1×	2.08e-3	2.35e-2 ✓ sig.
JAK-STAT signaling pathway GH1, PRL	KEGG	2 / 168	20.4×	3.90e-3	3.71e-2 ✓ sig.
Aryl hydrocarbon receptor signalling AIP	Reactome	1 / 7	245×	4.07e-3	3.82e-2 ✓ sig.
Chemical carcinogenesis - receptor activation AIP, GNAS	KEGG	2 / 215	16.0×	6.31e-3	5.10e-2
PKA activation in glucagon signalling GNAS	Reactome	1 / 17	101×	9.87e-3	6.81e-2
Prostacyclin signalling through prostacyclin receptor GNAS	Reactome	1 / 19	90.3×	1.10e-2	7.27e-2
Synthesis, secretion, and deacylation of Ghrelin GH1	Reactome	1 / 19	90.3×	1.10e-2	7.27e-2
Cytokine-cytokine receptor interaction GH1, PRL	KEGG	2 / 298	11.5×	1.19e-2	7.61e-2
Glucagon signaling in metabolic regulation GNAS	Reactome	1 / 26	66.0×	1.51e-2	8.71e-2
PI3K-Akt signaling pathway GH1, PRL	KEGG	2 / 361	9.5×	1.71e-2	9.45e-2
Neuroactive ligand-receptor interaction GH1, PRL	KEGG	2 / 370	9.3×	1.79e-2	9.70e-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 ⇵
adenylate cyclase-activating adrenergic receptor signaling pathway GPR101, GNAS	GO:0071880	2 / 14	381×	1.09e-5	5.58e-4 ✓ sig.
positive regulation of receptor signaling pathway via JAK-STAT GH1, PRL	GO:0046427	2 / 40	133×	9.32e-5	2.87e-3 ✓ sig.
response to nutrient levels GH1, PRL	GO:0031667	2 / 79	67.6×	3.66e-4	7.68e-3 ✓ sig.
female pregnancy GNAS, PRL	GO:0007565	2 / 80	66.7×	3.75e-4	7.82e-3 ✓ sig.
positive regulation of lactation PRL	GO:1903489	1 / 2	1,335×	7.49e-4	1.25e-2 ✓ sig.
bone maturation GH1	GO:0070977	1 / 3	890×	1.12e-3	1.62e-2 ✓ sig.
prolactin signaling pathway PRL	GO:0038161	1 / 4	667×	1.50e-3	1.91e-2 ✓ sig.
adenylate cyclase-activating serotonin receptor signaling pathway GNAS	GO:0007192	1 / 5	534×	1.87e-3	2.19e-2 ✓ sig.
hair follicle placode formation GNAS	GO:0060789	1 / 5	534×	1.87e-3	2.19e-2 ✓ sig.
response to parathyroid hormone GNAS	GO:0071107	1 / 5	534×	1.87e-3	2.19e-2 ✓ sig.
regulation of skeletal muscle contraction GNAS	GO:0014819	1 / 6	445×	2.25e-3	2.41e-2 ✓ sig.
equilibrioception CDH23	GO:0050957	1 / 6	445×	2.25e-3	2.41e-2 ✓ sig.
cellular response to catecholamine stimulus GNAS	GO:0071870	1 / 7	381×	2.62e-3	2.62e-2 ✓ sig.
positive regulation of MAPK cascade GPR101, GH1	GO:0043410	2 / 224	23.8×	2.89e-3	2.76e-2 ✓ sig.
positive regulation of D-glucose transmembrane transport GH1	GO:0010828	1 / 8	334×	2.99e-3	2.82e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Acromegaly	Growth hormone-secreting pituitary adenoma	0.333	2	8.44e-8	6.27e-7 ✓ sig.
Chromosome xq26.3 duplication syndrome	X-linked acrogigantism due to xq26 microduplication	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Acromegaly	Chromosome xq26.3 duplication syndrome	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Acromegaly	X-linked acrogigantism due to xq26 microduplication	0.333	1	1.30e-4	3.90e-4 ✓ sig.
multiple endocrine neoplasia type 1	Pituitary gigantism	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Acromegaly	Pituitary adenoma	0.250	1	2.60e-4	6.40e-4 ✓ sig.
Acromegaly	Pituitary gigantism	0.250	1	2.60e-4	6.40e-4 ✓ sig.
Pituitary adenoma	Pituitary gigantism	0.250	1	2.60e-4	6.40e-4 ✓ sig.
Chromosome xq26.3 duplication syndrome	Growth hormone-secreting pituitary adenoma	0.167	1	3.25e-4	7.58e-4 ✓ sig.
Growth hormone-secreting pituitary adenoma	X-linked acrogigantism due to xq26 microduplication	0.167	1	3.25e-4	7.58e-4 ✓ sig.
Growth hormone-secreting pituitary adenoma	Pituitary gigantism	0.143	1	6.49e-4	1.22e-3 ✓ sig.

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