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Cluster 192

8 diseases · 13 shared-gene connections

8 Diseases

18 Unique genes

0.199 Avg. similarity score

Cinca syndrome Most-connected disease (5 links)

Significant edges only (q < 0.05) Spacing Colour by

Disease Searched: Cold autoinflammatory syndrome 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.

Cold autoinflammatory syndrome Cinca syndrome Infantile neurological cutaneous and articular syndrome Cryopyrin-associated periodic syndrome Autosomal dominant sensorineural deafness Anaphylaxis

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Cinca syndrome	5	5	1
Infantile neurological cutaneous and articular syndrome	5	5	1
Cold autoinflammatory syndrome	4	4	6
Cryopyrin-associated periodic syndrome	4	4	4
Autosomal dominant sensorineural deafness	3	3	6
Anaphylaxis	2	2	7
Autoinflammation, antibody deficiency, and immune dysregulation	2	2	1
Hearing loss with hypertrophic cardiomyopathy	1	1	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
NLRP3	6 / 8	Anaphylaxis, Autosomal dominant sensorineural deafness, Cinca syndrome, Cold autoinflammatory syndrome and 2 more
PLCG2	3 / 8	Autoinflammation, antibody deficiency, and immune dysregulation, Cold autoinflammatory syndrome, Cryopyrin-associated periodic syndrome
MYO6	2 / 8	Autosomal dominant sensorineural deafness, Hearing loss with hypertrophic cardiomyopathy
NLRC4	2 / 8	Cold autoinflammatory syndrome, Cryopyrin-associated periodic syndrome

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 ⇵
Intrinsic Pathway of Fibrin Clot Formation KNG1, F12	Reactome	2 / 23	58.0×	5.27e-4	8.61e-3 ✓ sig.
G alpha (q) signalling events KNG1, LTB4R, TRIO	Reactome	3 / 172	11.6×	2.01e-3	2.37e-2 ✓ sig.
NOD-like receptor signaling pathway NLRP3, NLRC4, NLRP12	KEGG	3 / 187	10.7×	2.55e-3	2.82e-2 ✓ sig.
The IPAF inflammasome NLRC4	Reactome	1 / 2	334×	3.00e-3	3.15e-2 ✓ sig.
Pathogenic Escherichia coli infection NLRP3, MYH9, MYO6	KEGG	3 / 200	10.0×	3.09e-3	3.21e-2 ✓ sig.
Salmonella infection NLRP3, NLRC4, MYO6	KEGG	3 / 248	8.1×	5.64e-3	4.92e-2 ✓ sig.
Glioma CAMK1D, PLCG2	KEGG	2 / 76	17.6×	5.66e-3	4.92e-2 ✓ sig.
Shigellosis NLRP3, PLCG2, NLRC4	KEGG	3 / 250	8.0×	5.77e-3	4.99e-2 ✓ sig.
Leukotriene receptors LTB4R	Reactome	1 / 5	133×	7.47e-3	5.89e-2
Complement and coagulation cascades KNG1, F12	KEGG	2 / 88	15.2×	7.53e-3	5.91e-2
Fc gamma R-mediated phagocytosis PLCG2, BIN1	KEGG	2 / 98	13.6×	9.26e-3	6.77e-2
Inflammatory mediator regulation of TRP channels KNG1, PLCG2	KEGG	2 / 99	13.5×	9.44e-3	6.85e-2
C-type lectin receptor signaling pathway NLRP3, PLCG2	KEGG	2 / 105	12.7×	1.06e-2	7.35e-2
CD163 mediating an anti-inflammatory response MYH9	Reactome	1 / 9	74.1×	1.34e-2	8.46e-2
DCC mediated attractive signaling TRIO	Reactome	1 / 11	60.7×	1.64e-2	9.53e-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 interleukin-1 beta production NLRP3, NLRC4, NLRP12	GO:0032731	3 / 66	47.2×	3.31e-5	1.36e-3 ✓ sig.
inflammatory response CAMK1D, KNG1, LTB4R, NLRP3, NLRC4	GO:0006954	5 / 467	11.1×	6.24e-5	2.20e-3 ✓ sig.
actin filament-based movement MYH9, MYO6	GO:0030048	2 / 21	98.9×	1.82e-4	4.89e-3 ✓ sig.
pattern recognition receptor signaling pathway NLRP3, NLRC4	GO:0002221	2 / 21	98.9×	1.82e-4	4.89e-3 ✓ sig.
positive regulation of inflammatory response NLRP3, NLRC4, NLRP12	GO:0050729	3 / 122	25.5×	2.06e-4	5.33e-3 ✓ sig.
positive regulation of apoptotic process CAMK1D, KNG1, NLRC4, BIN1	GO:0043065	4 / 326	12.7×	2.29e-4	5.74e-3 ✓ sig.
positive regulation of NLRP3 inflammasome complex assembly NLRP3, PLCG2	GO:1900227	2 / 33	62.9×	4.55e-4	9.28e-3 ✓ sig.
regulation of canonical NF-kappaB signal transduction PLCG2, NLRP12	GO:0043122	2 / 36	57.7×	5.41e-4	1.04e-2 ✓ sig.
pyroptotic inflammatory response NLRP3, NLRC4	GO:0070269	2 / 40	51.9×	6.69e-4	1.20e-2 ✓ sig.
negative regulation of non-canonical NF-kappaB signal transduction NLRP3, NLRP12	GO:1901223	2 / 41	50.6×	7.03e-4	1.24e-2 ✓ sig.
negative regulation of ventricular cardiac muscle cell action potential BIN1	GO:1903946	1 / 1	1,038×	9.63e-4	1.52e-2 ✓ sig.
regulation of granulocyte chemotaxis CAMK1D	GO:0071622	1 / 1	1,038×	9.63e-4	1.52e-2 ✓ sig.
placenta development MME, GJB3	GO:0001890	2 / 48	43.3×	9.63e-4	1.52e-2 ✓ sig.
neuropeptide processing MME	GO:0061837	1 / 1	1,038×	9.63e-4	1.52e-2 ✓ sig.
regulation of interleukin-18 production NLRP12	GO:0032661	1 / 1	1,038×	9.63e-4	1.52e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Cold autoinflammatory syndrome	Cryopyrin-associated periodic syndrome	0.375	3	1.31e-10	1.29e-9 ✓ sig.
Cinca syndrome	Infantile neurological cutaneous and articular syndrome	0.500	1	6.49e-5	2.33e-4 ✓ sig.
Autoinflammation, antibody deficiency, and immune dysregulation	Cryopyrin-associated periodic syndrome	0.200	1	2.60e-4	6.51e-4 ✓ sig.
Cinca syndrome	Cryopyrin-associated periodic syndrome	0.200	1	2.60e-4	6.51e-4 ✓ sig.
Cryopyrin-associated periodic syndrome	Infantile neurological cutaneous and articular syndrome	0.200	1	2.60e-4	6.51e-4 ✓ sig.
Autoinflammation, antibody deficiency, and immune dysregulation	Cold autoinflammatory syndrome	0.143	1	3.90e-4	8.67e-4 ✓ sig.
Autosomal dominant sensorineural deafness	Infantile neurological cutaneous and articular syndrome	0.143	1	3.90e-4	8.67e-4 ✓ sig.
Autosomal dominant sensorineural deafness	Cinca syndrome	0.143	1	3.90e-4	8.67e-4 ✓ sig.
Autosomal dominant sensorineural deafness	Hearing loss with hypertrophic cardiomyopathy	0.143	1	3.90e-4	8.67e-4 ✓ sig.
Cinca syndrome	Cold autoinflammatory syndrome	0.143	1	3.90e-4	8.67e-4 ✓ sig.
Cold autoinflammatory syndrome	Infantile neurological cutaneous and articular syndrome	0.143	1	3.90e-4	8.67e-4 ✓ sig.
Anaphylaxis	Infantile neurological cutaneous and articular syndrome	0.125	1	4.55e-4	9.73e-4 ✓ sig.
Anaphylaxis	Cinca syndrome	0.125	1	4.55e-4	9.73e-4 ✓ sig.

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