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Cluster 325

6 diseases · 9 shared-gene connections

6 Diseases

7 Unique genes

0.280 Avg. similarity score

Congenital thrombotic thrombocytopenic purpura 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.

Congenital thrombotic thrombocytopenic purpura Arteritis Central retinal vein occlusion hereditary thrombophilia due to congenital protein C deficiency Three-vessel coronary artery disease Upshaw-schulman syndrome

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Congenital thrombotic thrombocytopenic purpura	5	5	2
Arteritis	3	3	4
Central retinal vein occlusion	3	3	1
hereditary thrombophilia due to congenital protein C deficiency	3	3	1
Three-vessel coronary artery disease	2	2	3
Upshaw-schulman syndrome	2	2	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
PROC	4 / 6	Arteritis, Central retinal vein occlusion, Congenital thrombotic thrombocytopenic purpura, hereditary thrombophilia due to congenital protein C deficiency
ADAMTS13	3 / 6	Congenital thrombotic thrombocytopenic purpura, Three-vessel coronary artery disease, Upshaw-schulman 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 ⇵
ABO blood group biosynthesis ABO	Reactome	1 / 3	572×	1.75e-3	2.07e-2 ✓ sig.
Biosynthesis of protectins CYP1A1	Reactome	1 / 4	429×	2.33e-3	2.55e-2 ✓ sig.
Synthesis of 5-eicosatetraenoic acids PON1	Reactome	1 / 6	286×	3.49e-3	3.42e-2 ✓ sig.
Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET) CYP1A1	Reactome	1 / 8	214×	4.65e-3	4.18e-2 ✓ sig.
Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) CYP1A1	Reactome	1 / 9	191×	5.24e-3	4.50e-2 ✓ sig.
Gamma-carboxylation of protein precursors PROC	Reactome	1 / 9	191×	5.24e-3	4.50e-2 ✓ sig.
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus PROC	Reactome	1 / 9	191×	5.24e-3	4.50e-2 ✓ sig.
Removal of aminoterminal propeptides from gamma-carboxylated proteins PROC	Reactome	1 / 10	172×	5.82e-3	4.84e-2 ✓ sig.
Glycosphingolipid biosynthesis - globo and isoglobo series ABO	KEGG	1 / 16	107×	9.29e-3	6.56e-2
Common Pathway of Fibrin Clot Formation PROC	Reactome	1 / 22	78.0×	1.28e-2	7.89e-2
Intrinsic Pathway of Fibrin Clot Formation PROC	Reactome	1 / 23	74.6×	1.33e-2	8.11e-2
Xenobiotics CYP1A1	Reactome	1 / 24	71.5×	1.39e-2	8.31e-2
Glycosphingolipid biosynthesis - lacto and neolacto series ABO	KEGG	1 / 28	61.3×	1.62e-2	9.12e-2
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription CDKN2B	Reactome	1 / 32	53.6×	1.85e-2	9.85e-2
Oncogene Induced Senescence CDKN2B	Reactome	1 / 33	52.0×	1.91e-2	1.00e-1

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵	GO ID ⇵	Overlap genes ⇵	Fold enrichment ⇵	P-value ⇵	FDR q-value ⇵
response to toxic substance CYP1A1, PON1, ADAMTS13	GO:0009636	3 / 83	96.5×	2.92e-6	1.95e-4 ✓ sig.
hemostasis PROC, ADAMTS13	GO:0007599	2 / 55	97.1×	1.77e-4	4.64e-3 ✓ sig.
ethylene metabolic process CYP1A1	GO:0009692	1 / 1	2,670×	3.75e-4	7.81e-3 ✓ sig.
insecticide metabolic process CYP1A1	GO:0017143	1 / 1	2,670×	3.75e-4	7.81e-3 ✓ sig.
dibenzo-p-dioxin catabolic process CYP1A1	GO:0019341	1 / 1	2,670×	3.75e-4	7.81e-3 ✓ sig.
response to diphenyl ether CYP1A1	GO:1901497	1 / 1	2,670×	3.75e-4	7.81e-3 ✓ sig.
organophosphate catabolic process PON1	GO:0046434	1 / 1	2,670×	3.75e-4	7.81e-3 ✓ sig.
blood coagulation PROC, ADAMTS13	GO:0007596	2 / 106	50.4×	6.57e-4	1.15e-2 ✓ sig.
response to iron(III) ion CYP1A1	GO:0010041	1 / 2	1,335×	7.49e-4	1.25e-2 ✓ sig.
response to 3-methylcholanthrene CYP1A1	GO:1904681	1 / 2	1,335×	7.49e-4	1.25e-2 ✓ sig.
dibenzo-p-dioxin metabolic process CYP1A1	GO:0018894	1 / 3	890×	1.12e-3	1.62e-2 ✓ sig.
negative regulation of plasma lipoprotein oxidation PON1	GO:0034445	1 / 3	890×	1.12e-3	1.62e-2 ✓ sig.
phenol-containing compound metabolic process CYP1A1	GO:0018958	1 / 3	890×	1.12e-3	1.62e-2 ✓ sig.
response to genistein CYP1A1	GO:0033595	1 / 3	890×	1.12e-3	1.62e-2 ✓ sig.
lactone catabolic process PON1	GO:1901335	1 / 3	890×	1.12e-3	1.62e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Central retinal vein occlusion	hereditary thrombophilia due to congenital protein C deficiency	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Central retinal vein occlusion	Congenital thrombotic thrombocytopenic purpura	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Congenital thrombotic thrombocytopenic purpura	hereditary thrombophilia due to congenital protein C deficiency	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Congenital thrombotic thrombocytopenic purpura	Upshaw-schulman syndrome	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Three-vessel coronary artery disease	Upshaw-schulman syndrome	0.250	1	1.95e-4	5.28e-4 ✓ sig.
Arteritis	Central retinal vein occlusion	0.200	1	2.60e-4	6.40e-4 ✓ sig.
Arteritis	hereditary thrombophilia due to congenital protein C deficiency	0.200	1	2.60e-4	6.40e-4 ✓ sig.
Congenital thrombotic thrombocytopenic purpura	Three-vessel coronary artery disease	0.200	1	3.90e-4	8.52e-4 ✓ sig.
Arteritis	Congenital thrombotic thrombocytopenic purpura	0.167	1	5.19e-4	1.04e-3 ✓ sig.

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