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Cluster 328

6 diseases · 8 shared-gene connections

6 Diseases

17 Unique genes

0.183 Avg. similarity score

Sebastian syndrome Most-connected disease (4 links)

Significant edges only (q < 0.05) Spacing Colour by

Disease Searched: Autosomal dominant sensorineural deafness 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.

Autosomal dominant sensorineural deafness Sebastian syndrome macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Lobular carcinoma Renal hypertension Hearing loss with hypertrophic cardiomyopathy

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Sebastian syndrome	4	4	1
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	4	4	1
Autosomal dominant sensorineural deafness	3	3	6
Lobular carcinoma	2	2	6
Renal hypertension	2	2	7
Hearing loss with hypertrophic cardiomyopathy	1	1	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
MYH9	5 / 6	Autosomal dominant sensorineural deafness, Lobular carcinoma, macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Renal hypertension and 1 more
MYO6	2 / 6	Autosomal dominant sensorineural deafness, Hearing loss with hypertrophic cardiomyopathy

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 ⇵
Vascular smooth muscle contraction MYH9, PPP1R12B, AGT, NPPA	KEGG	4 / 134	21.1×	3.15e-5	8.84e-4 ✓ sig.
Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET) CYP2C8, CYP2J2	Reactome	2 / 8	177×	5.25e-5	1.35e-3 ✓ sig.
Lipid and atherosclerosis NLRP3, CYP2C8, CYP2J2, HSPA8	KEGG	4 / 216	13.1×	2.01e-4	3.96e-3 ✓ sig.
Hormone signaling AGTR2, STAT5A, AGT, NPPA	KEGG	4 / 219	12.9×	2.12e-4	4.13e-3 ✓ sig.
Renin-angiotensin system AGTR2, AGT	KEGG	2 / 23	61.4×	4.69e-4	7.75e-3 ✓ sig.
RHO GTPases activate PAKs MYH9, PPP1R12B	Reactome	2 / 23	61.4×	4.69e-4	7.75e-3 ✓ sig.
Xenobiotics CYP2C8, CYP2J2	Reactome	2 / 24	58.9×	5.11e-4	8.26e-3 ✓ sig.
Linoleic acid metabolism CYP2C8, CYP2J2	KEGG	2 / 30	47.1×	8.01e-4	1.18e-2 ✓ sig.
Pathogenic Escherichia coli infection MYH9, NLRP3, MYO6	KEGG	3 / 200	10.6×	2.60e-3	2.84e-2 ✓ sig.
Signaling by Leptin STAT5A	Reactome	1 / 2	353×	2.83e-3	3.00e-2 ✓ sig.
Arachidonic acid metabolism CYP2C8, CYP2J2	KEGG	2 / 63	22.4×	3.50e-3	3.48e-2 ✓ sig.
Renin secretion AGT, NPPA	KEGG	2 / 69	20.5×	4.18e-3	3.94e-2 ✓ sig.
Aldosterone synthesis and secretion AGT, NPPA	KEGG	2 / 98	14.4×	8.28e-3	6.22e-2
Biosynthesis of maresin-like SPMs CYP2C8	Reactome	1 / 6	118×	8.46e-3	6.31e-2
AGE-RAGE signaling pathway in diabetic complications STAT5A, AGT	KEGG	2 / 101	14.0×	8.77e-3	6.46e-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 ⇵
G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger AGTR2, AGT	GO:0007199	2 / 2	1,099×	7.79e-7	6.82e-5 ✓ sig.
negative regulation of neurotrophin TRK receptor signaling pathway AGTR2, AGT	GO:0051387	2 / 4	550×	4.67e-6	2.89e-4 ✓ sig.
blood vessel diameter maintenance AGTR2, AGT, NPPA	GO:0097746	3 / 37	89.1×	4.77e-6	2.94e-4 ✓ sig.
organic acid metabolic process CYP2C8, CYP2J2	GO:0006082	2 / 8	275×	2.17e-5	9.72e-4 ✓ sig.
nitric oxide-cGMP-mediated signaling AGTR2, AGT	GO:0038060	2 / 10	220×	3.49e-5	1.39e-3 ✓ sig.
regulation of blood pressure AGTR2, AGT, NPPA	GO:0008217	3 / 83	39.7×	5.49e-5	1.97e-3 ✓ sig.
angiotensin-activated signaling pathway AGTR2, AGT	GO:0038166	2 / 16	137×	9.28e-5	2.93e-3 ✓ sig.
positive regulation of branching involved in ureteric bud morphogenesis AGTR2, AGT	GO:0090190	2 / 18	122×	1.18e-4	3.49e-3 ✓ sig.
epoxygenase P450 pathway CYP2C8, CYP2J2	GO:0019373	2 / 18	122×	1.18e-4	3.49e-3 ✓ sig.
actin filament-based movement MYH9, MYO6	GO:0030048	2 / 21	105×	1.62e-4	4.42e-3 ✓ sig.
positive regulation of inflammatory response STAT5A, NLRP3, AGT	GO:0050729	3 / 122	27.0×	1.73e-4	4.64e-3 ✓ sig.
positive regulation of extrinsic apoptotic signaling pathway AGTR2, AGT	GO:2001238	2 / 38	57.9×	5.37e-4	1.02e-2 ✓ sig.
arachidonate metabolic process CYP2C8, CYP2J2	GO:0019369	2 / 41	53.6×	6.26e-4	1.14e-2 ✓ sig.
blood vessel remodeling AGTR2, AGT	GO:0001974	2 / 42	52.3×	6.56e-4	1.17e-2 ✓ sig.
negative regulation of ventricular cardiac muscle cell action potential BIN1	GO:1903946	1 / 1	1,099×	9.10e-4	1.46e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Sebastian syndrome	0.500	1	6.49e-5	2.32e-4 ✓ sig.
Autosomal dominant sensorineural deafness	Hearing loss with hypertrophic cardiomyopathy	0.143	1	3.90e-4	8.64e-4 ✓ sig.
Autosomal dominant sensorineural deafness	Sebastian syndrome	0.143	1	3.90e-4	8.64e-4 ✓ sig.
Lobular carcinoma	Sebastian syndrome	0.143	1	3.90e-4	8.64e-4 ✓ sig.
Lobular carcinoma	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	0.143	1	3.90e-4	8.64e-4 ✓ sig.
Autosomal dominant sensorineural deafness	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	0.143	1	3.90e-4	8.64e-4 ✓ sig.
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Renal hypertension	0.125	1	4.55e-4	9.70e-4 ✓ sig.
Renal hypertension	Sebastian syndrome	0.125	1	4.55e-4	9.70e-4 ✓ sig.

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