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Cluster 383

5 diseases · 8 shared-gene connections

5 Diseases

18 Unique genes

0.180 Avg. similarity score

C1 esterase inhibitor deficiency Most-connected disease (4 links)

Significant edges only (q < 0.05) Spacing Colour by

Disease Searched: C9 deficiency 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.

C9 deficiency C1 esterase inhibitor deficiency Complement component deficiency Terminal complement component deficiency Hereditary c1 esterase inhibitor deficiency

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
C1 esterase inhibitor deficiency	4	4	6
Complement component deficiency	4	4	17
C9 deficiency	3	3	1
Terminal complement component deficiency	3	3	7
Hereditary c1 esterase inhibitor deficiency	2	2	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
C9	4 / 5	C1 esterase inhibitor deficiency, C9 deficiency, Complement component deficiency, Terminal complement component deficiency
C8A	3 / 5	C1 esterase inhibitor deficiency, Complement component deficiency, Terminal complement component deficiency
C8B	3 / 5	C1 esterase inhibitor deficiency, Complement component deficiency, Terminal complement component deficiency
SERPING1	3 / 5	C1 esterase inhibitor deficiency, Complement component deficiency, Hereditary c1 esterase inhibitor deficiency
C2	2 / 5	C1 esterase inhibitor deficiency, Complement component deficiency
C4B	2 / 5	C1 esterase inhibitor deficiency, Complement component deficiency
C5	2 / 5	Complement component deficiency, Terminal complement component deficiency
C6	2 / 5	Complement component deficiency, Terminal complement component deficiency
C7	2 / 5	Complement component deficiency, Terminal complement component deficiency

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 ⇵
Regulation of Complement cascade C2, C4B, C8A, C8B, C9, SERPING1, CFB, C3, C4A, C5, C6, C7	Reactome	16 / 47	227×	2.58e-38	1.59e-34 ✓ sig.
Complement and coagulation cascades C2, C4B, C8A, C8B, C9, SERPING1, CFB, C3, C4A, C5, C6, C7	KEGG	17 / 88	129×	1.75e-36	8.48e-33 ✓ sig.
Coronavirus disease - COVID-19 C2, C4B, C8A, C8B, C9, CFB, C3, C4A, C5, C6, C7, C1S	KEGG	14 / 238	39.2×	2.80e-21	2.45e-18 ✓ sig.
Terminal pathway of complement C8A, C8B, C9, C5, C6, C7, C8G	Reactome	7 / 8	584×	3.56e-20	2.66e-17 ✓ sig.
Systemic lupus erythematosus C2, C4B, C8A, C8B, C9, C3, C4A, C5, C6, C7, C1S, C8G	KEGG	12 / 140	57.2×	6.82e-20	4.86e-17 ✓ sig.
Staphylococcus aureus infection C2, C4B, CFB, C3, C4A, C5, C1S, CFD, CFH, CFI	KEGG	10 / 99	67.4×	3.77e-17	1.77e-14 ✓ sig.
Activation of C3 and C5 C2, C4B, CFB, C3, C4A, C5	Reactome	6 / 8	500×	1.25e-16	5.38e-14 ✓ sig.
Pertussis C2, C4B, SERPING1, C3, C4A, C5, C1S	KEGG	7 / 78	59.9×	1.11e-11	2.00e-9 ✓ sig.
Initial triggering of complement C2, C4B, C4A, C1S	Reactome	4 / 17	157×	8.30e-9	7.81e-7 ✓ sig.
Regulation of actin cytoskeleton C8A, C8B, C9, C5, C6, C7, C8G	KEGG	7 / 232	20.1×	2.44e-8	2.01e-6 ✓ sig.
Alternative complement activation CFB, C3, CFD	Reactome	3 / 5	400×	2.82e-8	2.29e-6 ✓ sig.
Prion disease C8A, C8B, C9, C5, C6, C7, C8G	KEGG	7 / 275	17.0×	7.84e-8	5.66e-6 ✓ sig.
Alcoholic liver disease C2, C4B, C3, C4A, C5	KEGG	5 / 144	23.2×	1.75e-6	8.45e-5 ✓ sig.
Amoebiasis C8A, C8B, C9, C8G	KEGG	4 / 103	25.9×	1.42e-5	4.74e-4 ✓ sig.
Post-translational protein phosphorylation C4B, C3, C4A	Reactome	3 / 108	18.5×	5.23e-4	8.56e-3 ✓ 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 ⇵
complement activation C2, C4B, C8A, C8B, C9, CFB, C3, C4A, C5, C6, C7, C1S	GO:0006956	16 / 35	475×	5.90e-44	7.45e-40 ✓ sig.
complement activation, GZMK pathway C2, C4B, C8A, C8B, C9, C3, C4A, C5, C6, C7, C8G	GO:0160257	11 / 12	952×	1.58e-34	1.05e-30 ✓ sig.
complement activation, classical pathway C2, C4B, C8A, C8B, C9, C3, C4A, C5, C6, C7, C1S, CFI	GO:0006958	13 / 37	365×	5.60e-33	3.60e-29 ✓ sig.
complement activation, alternative pathway C8A, C8B, C9, CFB, C3, C5, C7, CFD, CFH, C8G	GO:0006957	10 / 16	649×	2.45e-28	1.14e-24 ✓ sig.
killing of cells of another organism C2, C8A, C8B, C9, CFB, C3, C4A, C5, C6, C7, C1S, C8G	GO:0031640	12 / 104	120×	8.28e-24	2.34e-20 ✓ sig.
innate immune response C2, C4B, C8A, C8B, C9, CFB, C3, C4A, C5, C6, C7, C1S	GO:0045087	16 / 605	27.5×	1.73e-22	3.97e-19 ✓ sig.
immune system process C2, C4B, C8A, C8B, C9, CFB, C3, C4A, C5, C6, C7, C1S	GO:0002376	16 / 943	17.6×	2.18e-19	3.08e-16 ✓ sig.
activation of membrane attack complex C2, CFB, C3, C4A, C1S	GO:0001905	5 / 13	399×	5.78e-13	2.76e-10 ✓ sig.
positive regulation of immune response C8A, C8B, C9, C6, C7, C8G	GO:0050778	6 / 40	156×	1.18e-12	5.40e-10 ✓ sig.
opsonization C2, C4B, C3, C4A, C1S	GO:0008228	5 / 18	288×	3.84e-12	1.58e-9 ✓ sig.
positive regulation of apoptotic cell clearance C2, C4B, C3, C4A	GO:2000427	4 / 6	692×	9.03e-12	3.36e-9 ✓ sig.
complement activation, lectin pathway C2, C3, C4A, C5	GO:0001867	4 / 13	319×	4.28e-10	1.06e-7 ✓ sig.
protein maturation C2, CFB, C3, C4A, C1S, CFD	GO:0051604	6 / 134	46.5×	2.10e-9	4.34e-7 ✓ sig.
immune response C8A, C8B, C9, C3, C6, C7	GO:0006955	6 / 543	11.5×	8.07e-6	4.57e-4 ✓ sig.
response to bacterium C2, CFB, C3, CFD	GO:0009617	4 / 140	29.7×	8.51e-6	4.77e-4 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
C1 esterase inhibitor deficiency	Complement component deficiency	0.333	6	6.69e-19	1.20e-17 ✓ sig.
Complement component deficiency	Terminal complement component deficiency	0.316	6	4.68e-18	8.09e-17 ✓ sig.
C1 esterase inhibitor deficiency	Terminal complement component deficiency	0.273	3	1.15e-9	1.04e-8 ✓ sig.
C1 esterase inhibitor deficiency	Hereditary c1 esterase inhibitor deficiency	0.143	1	3.90e-4	8.67e-4 ✓ sig.
C1 esterase inhibitor deficiency	C9 deficiency	0.143	1	3.90e-4	8.67e-4 ✓ sig.
C9 deficiency	Terminal complement component deficiency	0.125	1	4.55e-4	9.73e-4 ✓ sig.
C9 deficiency	Complement component deficiency	0.056	1	1.10e-3	1.83e-3 ✓ sig.
Complement component deficiency	Hereditary c1 esterase inhibitor deficiency	0.056	1	1.10e-3	1.83e-3 ✓ sig.

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