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 147

9 diseases · 12 shared-gene connections
9 Diseases
22 Unique genes
0.107 Avg. similarity score
Mucopolysaccharidosis Most-connected disease (8 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 ⇵
Mucopolysaccharidosis 8 8 22
Sanfilippo syndrome 5 5 4
mucopolysaccharidosis type 3A 2 2 1
mucopolysaccharidosis type 3B 2 2 1
mucopolysaccharidosis type 3C 2 2 1
mucopolysaccharidosis type 3D 2 2 1
mucopolysaccharidosis type 4A 1 1 1
mucopolysaccharidosis type 7 1 1 1
mucopolysaccharidosis-plus syndrome 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
GNS 3 / 9 Mucopolysaccharidosis, mucopolysaccharidosis type 3D, Sanfilippo syndrome
HGSNAT 3 / 9 Mucopolysaccharidosis, mucopolysaccharidosis type 3C, Sanfilippo syndrome
NAGLU 3 / 9 Mucopolysaccharidosis, mucopolysaccharidosis type 3B, Sanfilippo syndrome
SGSH 3 / 9 Mucopolysaccharidosis, mucopolysaccharidosis type 3A, Sanfilippo syndrome
GALNS 2 / 9 Mucopolysaccharidosis, mucopolysaccharidosis type 4A
GUSB 2 / 9 Mucopolysaccharidosis, mucopolysaccharidosis type 7
VPS33A 2 / 9 Mucopolysaccharidosis, mucopolysaccharidosis-plus 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 ⇵
Glycosaminoglycan degradation
HYAL1, IDUA, IDS, GNS, HGSNAT, NAGLU, SGSH, GALNS, GLB1, ARSB, GUSB
 KEGG 11 / 19 316× 2.83e-27 6.52e-24 ✓ sig.
Lysosome
HYAL1, IDUA, IDS, GNS, HGSNAT, NAGLU, SGSH, GALNS, GLB1, ARSB, GUSB, GNPTAB
 KEGG 12 / 133 49.3× 1.21e-18 7.99e-16 ✓ sig.
HS-GAG degradation
IDUA, IDS, HGSNAT, NAGLU, SGSH, GLB1, GUSB
 Reactome 7 / 22 174× 4.01e-15 1.39e-12 ✓ sig.
CS/DS degradation
HYAL1, IDUA, IDS, ARSB
 Reactome 4 / 14 156× 8.35e-9 7.51e-7 ✓ sig.
Metabolic pathways
HYAL1, IDUA, IDS, COASY, GNS, HGSNAT, NAGLU, SGSH, GALNS, GLB1, ARSB, GUSB
 KEGG 13 / 1,563 4.5× 4.65e-7 2.51e-5 ✓ sig.
Keratan sulfate degradation
GNS, GALNS, GLB1
 Reactome 3 / 13 126× 1.51e-6 6.95e-5 ✓ sig.
Neutrophil degranulation
GNS, HGSNAT, GALNS, GLB1, ARSB, GUSB, APRT
 Reactome 7 / 480 8.0× 1.58e-5 4.91e-4 ✓ sig.
Glycosphingolipid metabolism
ARSK, GLB1, ARSB
 Reactome 3 / 46 35.6× 7.70e-5 1.81e-3 ✓ sig.
Multifunctional anion exchangers
SLC26A1, SLC26A11
 Reactome 2 / 9 121× 1.14e-4 2.50e-3 ✓ sig.
Hyaluronan uptake and degradation
HYAL1, GUSB
 Reactome 2 / 12 91.0× 2.09e-4 4.04e-3 ✓ sig.
The activation of arylsulfatases
ARSK, ARSB
 Reactome 2 / 13 84.0× 2.47e-4 4.60e-3 ✓ sig.
MPS IIIC - Sanfilippo syndrome C
HGSNAT
 Reactome 1 / 1 546× 1.83e-3 2.14e-2 ✓ sig.
MPS IV - Morquio syndrome A
GALNS
 Reactome 1 / 1 546× 1.83e-3 2.14e-2 ✓ sig.
MPS IV - Morquio syndrome B
GLB1
 Reactome 1 / 1 546× 1.83e-3 2.14e-2 ✓ sig.
MPS IIID - Sanfilippo syndrome D
GNS
 Reactome 1 / 1 546× 1.83e-3 2.14e-2 ✓ 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 ⇵
heparan sulfate proteoglycan catabolic process
IDUA, IDS, GNS, HGSNAT, NAGLU, SGSH, GLB1, GUSB
 GO:0030200 8 / 10 680× 3.90e-23 1.01e-19 ✓ sig.
glycosaminoglycan catabolic process
HYAL1, IDUA, IDS, GNS, SGSH, GUSB
 GO:0006027 6 / 9 566× 1.06e-16 1.00e-13 ✓ sig.
keratan sulfate proteoglycan catabolic process
GNS, GLB1
 GO:0042340 2 / 2 849× 1.32e-6 1.03e-4 ✓ sig.
chondroitin sulfate proteoglycan catabolic process
HYAL1, GUSB
 GO:0030207 2 / 4 425× 7.93e-6 4.34e-4 ✓ sig.
dermatan sulfate proteoglycan catabolic process
IDUA, IDS
 GO:0030209 2 / 4 425× 7.93e-6 4.34e-4 ✓ sig.
carbohydrate metabolic process
HYAL1, IDUA, GLB1, GUSB
 GO:0005975 4 / 175 19.4× 4.76e-5 1.73e-3 ✓ sig.
lysosome organization
NAGLU, ARSB, GNPTAB
 GO:0007040 3 / 65 39.2× 5.90e-5 2.03e-3 ✓ sig.
oxalate transport
SLC26A1, SLC26A11
 GO:0019532 2 / 11 154× 7.23e-5 2.38e-3 ✓ sig.
glycosaminoglycan metabolic process
GNS, NAGLU
 GO:0030203 2 / 12 142× 8.67e-5 2.72e-3 ✓ sig.
hyaluronan catabolic process
HYAL1, GUSB
 GO:0030214 2 / 16 106× 1.57e-4 4.25e-3 ✓ sig.
sulfate transmembrane transport
SLC26A1, SLC26A11
 GO:1902358 2 / 16 106× 1.57e-4 4.25e-3 ✓ sig.
vesicle tethering
NAGLU, TRAPPC2L
 GO:0099022 2 / 16 106× 1.57e-4 4.25e-3 ✓ sig.
lysosomal transport
HGSNAT, ARSB
 GO:0007041 2 / 26 65.3× 4.23e-4 8.55e-3 ✓ sig.
motor behavior
NAGLU, SGSH
 GO:0061744 2 / 30 56.6× 5.64e-4 1.04e-2 ✓ sig.
determination of adult lifespan
NAGLU, SGSH
 GO:0008340 2 / 38 44.7× 9.07e-4 1.42e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Mucopolysaccharidosis Sanfilippo syndrome 0.174 4 3.12e-12 3.78e-11 ✓ sig.
mucopolysaccharidosis type 3A Sanfilippo syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
mucopolysaccharidosis type 3B Sanfilippo syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
mucopolysaccharidosis type 3C Sanfilippo syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
mucopolysaccharidosis type 3D Sanfilippo syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Mucopolysaccharidosis mucopolysaccharidosis type 3A 0.043 1 1.43e-3 2.21e-3 ✓ sig.
Mucopolysaccharidosis mucopolysaccharidosis type 3B 0.043 1 1.43e-3 2.21e-3 ✓ sig.
Mucopolysaccharidosis mucopolysaccharidosis type 3C 0.043 1 1.43e-3 2.21e-3 ✓ sig.
Mucopolysaccharidosis mucopolysaccharidosis type 3D 0.043 1 1.43e-3 2.21e-3 ✓ sig.
Mucopolysaccharidosis mucopolysaccharidosis type 4A 0.043 1 1.43e-3 2.21e-3 ✓ sig.
Mucopolysaccharidosis mucopolysaccharidosis type 7 0.043 1 1.43e-3 2.21e-3 ✓ sig.
Mucopolysaccharidosis mucopolysaccharidosis-plus syndrome 0.043 1 1.43e-3 2.21e-3 ✓ sig.