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Cluster 528

5 diseases · 7 shared-gene connections
5 Diseases
7 Unique genes
0.286 Avg. similarity score
Porphyria cutanea tarda Most-connected disease (4 links)
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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.

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

Disease ⇵ Connections in cluster ⇵ Significant partners ⇵ Curated genes ⇵
Porphyria cutanea tarda 4 4 7
Coproporphyria 3 3 1
Harderoporphyria 3 3 1
Hereditary coproporphyria 3 3 1
Hepatoerythropoietic porphyria 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
CPOX 4 / 5 Coproporphyria, Harderoporphyria, Hereditary coproporphyria, Porphyria cutanea tarda
UROD 2 / 5 Hepatoerythropoietic porphyria, Porphyria cutanea tarda
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 ⇵
Heme biosynthesis Reactome 3 / 14 368× 4.40e-8 2.73e-6 ✓ sig.
Biosynthesis of protectins Reactome 2 / 4 858× 1.75e-6 6.76e-5 ✓ sig.
Porphyrin metabolism KEGG 3 / 46 112× 1.82e-6 6.98e-5 ✓ sig.
Chemical carcinogenesis - DNA adducts KEGG 3 / 70 73.5× 6.53e-6 2.04e-4 ✓ sig.
Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET) Reactome 2 / 8 429× 8.14e-6 2.46e-4 ✓ sig.
Metabolism of xenobiotics by cytochrome P450 KEGG 3 / 79 65.2× 9.41e-6 2.77e-4 ✓ sig.
Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) Reactome 2 / 9 381× 1.05e-5 3.02e-4 ✓ sig.
Metabolic pathways KEGG 6 / 1,563 6.6× 3.00e-5 7.24e-4 ✓ sig.
Biosynthesis of cofactors KEGG 3 / 154 33.4× 6.97e-5 1.42e-3 ✓ sig.
Chemical carcinogenesis - receptor activation KEGG 3 / 215 23.9× 1.88e-4 3.12e-3 ✓ sig.
Chemical carcinogenesis - reactive oxygen species KEGG 3 / 227 22.7× 2.21e-4 3.55e-3 ✓ sig.
Tryptophan metabolism KEGG 2 / 42 81.7× 2.48e-4 3.89e-3 ✓ sig.
Steroid hormone biosynthesis KEGG 2 / 63 54.5× 5.59e-4 7.29e-3 ✓ sig.
Aromatic amines can be N-hydroxylated or N-dealkylated by CYP1A2 Reactome 1 / 1 1,716× 5.83e-4 7.52e-3 ✓ sig.
Retinol metabolism KEGG 2 / 68 50.5× 6.51e-4 8.19e-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 ⇵
porphyrin-containing compound metabolic process GO:0006778 3 / 7 1,144× 1.13e-9 2.57e-7 ✓ sig.
protoporphyrinogen IX biosynthetic process GO:0006782 3 / 9 890× 2.70e-9 5.54e-7 ✓ sig.
heme O biosynthetic process GO:0048034 3 / 9 890× 2.70e-9 5.54e-7 ✓ sig.
heme A biosynthetic process GO:0006784 3 / 10 801× 3.86e-9 7.61e-7 ✓ sig.
heme B biosynthetic process GO:0006785 3 / 10 801× 3.86e-9 7.61e-7 ✓ sig.
response to arsenic-containing substance GO:0046685 3 / 11 728× 5.30e-9 1.01e-6 ✓ sig.
porphyrin-containing compound biosynthetic process GO:0006779 3 / 11 728× 5.30e-9 1.01e-6 ✓ sig.
response to iron ion GO:0010039 3 / 18 445× 2.62e-8 4.09e-6 ✓ sig.
heme biosynthetic process GO:0006783 3 / 27 297× 9.38e-8 1.20e-5 ✓ sig.
xenobiotic catabolic process GO:0042178 3 / 28 286× 1.05e-7 1.32e-5 ✓ sig.
dibenzo-p-dioxin metabolic process GO:0018894 2 / 3 1,780× 3.61e-7 3.69e-5 ✓ sig.
olefinic compound metabolic process GO:0120254 2 / 4 1,335× 7.21e-7 6.58e-5 ✓ sig.
response to herbicide GO:0009635 2 / 5 1,068× 1.20e-6 9.99e-5 ✓ sig.
response to methylmercury GO:0051597 2 / 6 890× 1.80e-6 1.39e-4 ✓ sig.
steroid catabolic process GO:0006706 2 / 7 763× 2.52e-6 1.83e-4 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Coproporphyria Hereditary coproporphyria 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Coproporphyria Harderoporphyria 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Harderoporphyria Hereditary coproporphyria 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Coproporphyria Porphyria cutanea tarda 0.125 1 4.52e-4 8.26e-4 ✓ sig.
Harderoporphyria Porphyria cutanea tarda 0.125 1 4.52e-4 8.26e-4 ✓ sig.
Hepatoerythropoietic porphyria Porphyria cutanea tarda 0.125 1 4.52e-4 8.26e-4 ✓ sig.
Hereditary coproporphyria Porphyria cutanea tarda 0.125 1 4.52e-4 8.26e-4 ✓ sig.