Disease Clusters?

Groups of diseases that share a large number of curated genes with each other, computed via label propagation over the shared-gene similarity graph. See also Shared-Gene Disease Pairs for pairwise comparisons.

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Cluster 78

13 diseases · 36 shared-gene connections
13 Diseases
38 Unique genes
0.212 Avg. similarity score
hereditary pheochromocytoma-paraganglioma Most-connected disease (10 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 ⇵
hereditary pheochromocytoma-paraganglioma 10 10 7
Carney-stratakis syndrome 9 9 4
Paraganglioma 9 9 8
Pheochromocytoma/paraganglioma syndrome 8 8 8
Cowden disease 7 7 9
Carney complex 6 6 7
Carcinoid syndrome 5 5 1
Intestinal cancer 5 5 1
Pheochromocytoma 5 5 16
Skeletal muscle disorder 4 4 4
Polydactyly-macrocephaly syndrome 2 2 1
congenital dyserythropoietic anemia type 2 1 1 1
cowden syndrome 6 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
SDHD 8 / 13 Carcinoid syndrome, Carney-stratakis syndrome, Cowden disease, hereditary pheochromocytoma-paraganglioma and 4 more
SDHB 7 / 13 Carney complex, Carney-stratakis syndrome, Cowden disease, hereditary pheochromocytoma-paraganglioma and 3 more
SDHA 6 / 13 Carney complex, Carney-stratakis syndrome, hereditary pheochromocytoma-paraganglioma, Paraganglioma and 2 more
SDHC 6 / 13 Carney complex, Carney-stratakis syndrome, Cowden disease, hereditary pheochromocytoma-paraganglioma and 2 more
MAX 3 / 13 hereditary pheochromocytoma-paraganglioma, Pheochromocytoma, Polydactyly-macrocephaly syndrome
SDHAF2 3 / 13 hereditary pheochromocytoma-paraganglioma, Paraganglioma, Pheochromocytoma/paraganglioma syndrome
AKT1 2 / 13 Cowden disease, cowden syndrome 6
SEC23B 2 / 13 congenital dyserythropoietic anemia type 2, Cowden disease
TMEM127 2 / 13 hereditary pheochromocytoma-paraganglioma, Pheochromocytoma
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 ⇵
Citric acid cycle (TCA cycle)
SDHD, SDHA, SDHB, SDHC, DLST, FH
 Reactome 6 / 22 86.2× 4.77e-11 7.41e-9 ✓ sig.
Citrate cycle (TCA cycle)
SDHD, SDHA, SDHB, SDHC, DLST, FH
 KEGG 6 / 30 63.2× 3.73e-10 4.69e-8 ✓ sig.
Tyrosine metabolism
COMT, DBH, DDC, MAOA, MAOB, TH
 KEGG 6 / 36 52.7× 1.21e-9 1.32e-7 ✓ sig.
Catecholamine biosynthesis
DBH, DDC, TH
 Reactome 3 / 4 237× 1.17e-7 7.49e-6 ✓ sig.
Dopaminergic synapse
AKT1, KIF5B, COMT, DDC, MAOA, MAOB, TH
 KEGG 7 / 132 16.8× 1.57e-7 9.68e-6 ✓ sig.
Carbon metabolism
SDHD, SDHA, SDHB, SDHC, DLST, FH
 KEGG 6 / 115 16.5× 1.45e-6 6.75e-5 ✓ sig.
Parkinson disease
SDHD, SDHA, SDHB, SDHC, KIF5B, MAOA, MAOB, TH
 KEGG 8 / 268 9.4× 1.52e-6 6.97e-5 ✓ sig.
Diabetic cardiomyopathy
SDHD, SDHA, SDHB, SDHC, AKT1, PIK3CA, PTEN
 KEGG 7 / 205 10.8× 3.07e-6 1.27e-4 ✓ sig.
Chemical carcinogenesis - reactive oxygen species
SDHD, SDHA, SDHB, SDHC, AKT1, PIK3CA, PTEN
 KEGG 7 / 227 9.7× 6.02e-6 2.20e-4 ✓ sig.
Tryptophan metabolism
DDC, MAOA, MAOB, DLST
 KEGG 4 / 42 30.1× 8.75e-6 3.00e-4 ✓ sig.
Non-alcoholic fatty liver disease
SDHD, SDHA, SDHB, SDHC, AKT1, PIK3CA
 KEGG 6 / 157 12.1× 8.86e-6 3.04e-4 ✓ sig.
Enzymatic degradation of Dopamine by monoamine oxidase
COMT, MAOA
 Reactome 2 / 2 316× 9.75e-6 3.28e-4 ✓ sig.
Biogenic amines are oxidatively deaminated to aldehydes by MAOA and MAOB
MAOA, MAOB
 Reactome 2 / 2 316× 9.75e-6 3.28e-4 ✓ sig.
Phenylalanine metabolism
DDC, MAOA, MAOB
 KEGG 3 / 16 59.3× 1.59e-5 4.95e-4 ✓ sig.
Cocaine addiction
DDC, MAOA, MAOB, TH
 KEGG 4 / 49 25.8× 1.63e-5 5.03e-4 ✓ 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 ⇵
mitochondrial electron transport, succinate to ubiquinone
SDHD, SDHA, SDHB, SDHC, SDHAF2
 GO:0006121 5 / 5 492× 2.64e-14 1.59e-11 ✓ sig.
tricarboxylic acid cycle
SDHD, SDHA, SDHB, SDHC, SDHAF2, DLST, FH
 GO:0006099 7 / 33 104× 3.29e-13 1.66e-10 ✓ sig.
dopamine catabolic process
COMT, DBH, MAOA, MAOB
 GO:0042420 4 / 11 179× 4.75e-9 8.90e-7 ✓ sig.
catecholamine biosynthetic process
DBH, DDC, TH
 GO:0042423 3 / 6 246× 1.55e-7 1.74e-5 ✓ sig.
catecholamine metabolic process
COMT, DDC, MAOA
 GO:0006584 3 / 9 164× 6.46e-7 5.80e-5 ✓ sig.
proton motive force-driven mitochondrial ATP synthesis
SDHD, SDHA, SDHB, SDHC
 GO:0042776 4 / 64 30.7× 8.46e-6 4.58e-4 ✓ sig.
serotonin biosynthetic process
DDC, TH
 GO:0042427 2 / 4 246× 2.41e-5 1.03e-3 ✓ sig.
phosphatidylinositol 3-kinase/protein kinase B signal transduction
AKT1, PIK3CA, PTEN, NF1
 GO:0043491 4 / 92 21.4× 3.57e-5 1.40e-3 ✓ sig.
retrograde neuronal dense core vesicle transport
KIF5B, KIF1B
 GO:1990049 2 / 5 197× 4.01e-5 1.52e-3 ✓ sig.
succinate metabolic process
SDHA, SDHB
 GO:0006105 2 / 5 197× 4.01e-5 1.52e-3 ✓ sig.
fear response
COMT, DBH
 GO:0042596 2 / 8 123× 1.12e-4 3.29e-3 ✓ sig.
dopamine biosynthetic process
DDC, TH
 GO:0042416 2 / 9 109× 1.44e-4 3.97e-3 ✓ sig.
neuron-neuron synaptic transmission
PTEN, KIF1B
 GO:0007270 2 / 9 109× 1.44e-4 3.97e-3 ✓ sig.
norepinephrine biosynthetic process
DBH, TH
 GO:0042421 2 / 9 109× 1.44e-4 3.97e-3 ✓ sig.
negative regulation of epithelial to mesenchymal transition
PTEN, USF3, SDHAF2
 GO:0010719 3 / 53 27.8× 1.69e-4 4.49e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
hereditary pheochromocytoma-paraganglioma Paraganglioma 0.455 5 1.63e-16 2.73e-15 ✓ sig.
hereditary pheochromocytoma-paraganglioma Pheochromocytoma/paraganglioma syndrome 0.455 5 1.63e-16 2.73e-15 ✓ sig.
Paraganglioma Pheochromocytoma/paraganglioma syndrome 0.417 5 4.35e-16 7.01e-15 ✓ sig.
Carney-stratakis syndrome hereditary pheochromocytoma-paraganglioma 0.500 4 1.49e-14 2.18e-13 ✓ sig.
Carney-stratakis syndrome Pheochromocytoma/paraganglioma syndrome 0.444 4 2.99e-14 4.26e-13 ✓ sig.
Carney-stratakis syndrome Paraganglioma 0.444 4 2.99e-14 4.26e-13 ✓ sig.
hereditary pheochromocytoma-paraganglioma Pheochromocytoma 0.200 4 2.72e-11 3.02e-10 ✓ sig.
Carney complex Carney-stratakis syndrome 0.333 3 2.30e-10 2.34e-9 ✓ sig.
Carney-stratakis syndrome Cowden disease 0.273 3 5.52e-10 5.42e-9 ✓ sig.
Carney complex hereditary pheochromocytoma-paraganglioma 0.250 3 2.01e-9 1.86e-8 ✓ sig.
Carney complex Pheochromocytoma/paraganglioma syndrome 0.231 3 3.22e-9 2.92e-8 ✓ sig.
Carney complex Paraganglioma 0.231 3 3.22e-9 2.92e-8 ✓ sig.
Cowden disease hereditary pheochromocytoma-paraganglioma 0.214 3 4.83e-9 4.31e-8 ✓ sig.
Cowden disease Pheochromocytoma/paraganglioma syndrome 0.200 3 7.72e-9 6.77e-8 ✓ sig.
Cowden disease Paraganglioma 0.200 3 7.72e-9 6.77e-8 ✓ sig.
Carney-stratakis syndrome Pheochromocytoma 0.105 2 6.07e-6 3.27e-5 ✓ sig.
Carney complex Cowden disease 0.133 2 6.37e-6 3.43e-5 ✓ sig.
Pheochromocytoma Pheochromocytoma/paraganglioma syndrome 0.087 2 2.82e-5 1.39e-4 ✓ sig.
Paraganglioma Pheochromocytoma 0.087 2 2.82e-5 1.39e-4 ✓ sig.
Carcinoid syndrome Intestinal cancer 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Carney-stratakis syndrome Intestinal cancer 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Carcinoid syndrome Carney-stratakis syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
hereditary pheochromocytoma-paraganglioma Polydactyly-macrocephaly syndrome 0.125 1 4.55e-4 9.55e-4 ✓ sig.
hereditary pheochromocytoma-paraganglioma Intestinal cancer 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Carcinoid syndrome hereditary pheochromocytoma-paraganglioma 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Intestinal cancer Paraganglioma 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Intestinal cancer Pheochromocytoma/paraganglioma syndrome 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Carcinoid syndrome Pheochromocytoma/paraganglioma syndrome 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Carcinoid syndrome Paraganglioma 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Cowden disease cowden syndrome 6 0.100 1 5.84e-4 1.14e-3 ✓ sig.
congenital dyserythropoietic anemia type 2 Cowden disease 0.100 1 5.84e-4 1.14e-3 ✓ sig.
Carney-stratakis syndrome Skeletal muscle disorder 0.125 1 1.04e-3 1.72e-3 ✓ sig.
Pheochromocytoma Polydactyly-macrocephaly syndrome 0.059 1 1.04e-3 1.72e-3 ✓ sig.
Carney complex Skeletal muscle disorder 0.091 1 1.82e-3 2.66e-3 ✓ sig.
hereditary pheochromocytoma-paraganglioma Skeletal muscle disorder 0.091 1 1.82e-3 2.66e-3 ✓ sig.
Paraganglioma Skeletal muscle disorder 0.083 1 2.08e-3 2.95e-3 ✓ sig.