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.

← Back to all clusters

Cluster 117

11 diseases · 23 shared-gene connections
11 Diseases
27 Unique genes
0.291 Avg. similarity score
ATR-X-related syndrome Most-connected disease (6 links)
Log in to save this analysis

Save This Analysis

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 ⇵
ATR-X-related syndrome 6 6 1
Alpha thalassemia x-linked intellectual disability 6 6 1
Atr-x syndrome 6 6 1
Intellectual developmental disorder hypotonic x-linked 6 6 2
X-linked alpha-thalassemia-intellectual disability syndrome 6 6 1
Penile disease 5 5 6
Thoracic disease 4 4 3
Say meyer syndrome 2 2 1
Urinary system disease 2 2 15
non-syndromic X-linked intellectual disability 2 2 7
Urinary tract obstruction 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
ATRX 7 / 11 Alpha thalassemia x-linked intellectual disability, Atr-x syndrome, ATR-X-related syndrome, Intellectual developmental disorder hypotonic x-linked and 3 more
HUWE1 3 / 11 Intellectual developmental disorder hypotonic x-linked, non-syndromic X-linked intellectual disability, Say meyer syndrome
LRRC75A 2 / 11 Penile disease, Urinary system disease
RIOX2 2 / 11 Urinary system disease, Urinary tract obstruction
SLC9A9 2 / 11 Penile disease, Urinary system disease
ZNF287 2 / 11 Penile disease, Urinary system disease
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 ⇵
Defective SLC9A9 causes autism 16 (AUTS16)
SLC9A9
 Reactome 1 / 1 445× 2.25e-3 2.48e-2 ✓ sig.
Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)
POMC
 Reactome 1 / 2 222× 4.49e-3 4.08e-2 ✓ sig.
Peptide hormone biosynthesis
POMC
 Reactome 1 / 2 222× 4.49e-3 4.08e-2 ✓ sig.
ARL13B-mediated ciliary trafficking of INPP5E
INPP5E
 Reactome 1 / 3 148× 6.73e-3 5.32e-2
Intracellular metabolism of fatty acids regulates insulin secretion
ACSL4
 Reactome 1 / 3 148× 6.73e-3 5.32e-2
Opioid Signalling
POMC
 Reactome 1 / 3 148× 6.73e-3 5.32e-2
Localization of the PINCH-ILK-PARVIN complex to focal adhesions
ILK
 Reactome 1 / 4 111× 8.96e-3 6.42e-2
Adipocytokine signaling pathway
POMC, ACSL4
 KEGG 2 / 70 12.7× 1.07e-2 7.16e-2
PPAR signaling pathway
ILK, ACSL4
 KEGG 2 / 76 11.7× 1.25e-2 7.82e-2
Sodium/Proton exchangers
SLC9A9
 Reactome 1 / 9 49.4× 2.01e-2 1.03e-1
Glucocorticoid biosynthesis
POMC
 Reactome 1 / 10 44.5× 2.23e-2 1.09e-1
Androgen biosynthesis
POMC
 Reactome 1 / 11 40.4× 2.45e-2 1.15e-1
Cell-extracellular matrix interactions
ILK
 Reactome 1 / 12 37.1× 2.67e-2 1.21e-1
Activation of Ca-permeable Kainate Receptor
DLG3
 Reactome 1 / 12 37.1× 2.67e-2 1.21e-1
Trafficking of GluR2-containing AMPA receptors
TSPAN7
 Reactome 1 / 17 26.2× 3.76e-2 1.46e-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 inositol
INPP5E, IFT80
 GO:1902140 2 / 4 346× 1.20e-5 6.02e-4 ✓ sig.
establishment or maintenance of epithelial cell apical/basal polarity
ILK, DLG3
 GO:0045197 2 / 29 47.7× 7.97e-4 1.30e-2 ✓ sig.
cellular pigmentation
POMC
 GO:0033059 1 / 1 692× 1.44e-3 1.87e-2 ✓ sig.
positive regulation of oxytocin production
POMC
 GO:0140668 1 / 1 692× 1.44e-3 1.87e-2 ✓ sig.
negative regulation of prostaglandin secretion
ACSL4
 GO:0032307 1 / 1 692× 1.44e-3 1.87e-2 ✓ sig.
protein localization to ciliary inversin compartment
INVS
 GO:1904108 1 / 1 692× 1.44e-3 1.87e-2 ✓ sig.
post-embryonic forelimb morphogenesis
ATRX
 GO:0035128 1 / 2 346× 2.89e-3 2.76e-2 ✓ sig.
negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric
ATRX
 GO:1904908 1 / 2 346× 2.89e-3 2.76e-2 ✓ sig.
neurotransmitter receptor transport postsynaptic membrane to endosome
MKLN1
 GO:0098968 1 / 2 346× 2.89e-3 2.76e-2 ✓ sig.
regulation of opioid receptor signaling pathway
SYP
 GO:2000474 1 / 2 346× 2.89e-3 2.76e-2 ✓ sig.
positive regulation of neutrophil mediated killing of fungus
POMC
 GO:0070965 1 / 2 346× 2.89e-3 2.76e-2 ✓ sig.
regulation of corticosterone secretion
POMC
 GO:2000852 1 / 2 346× 2.89e-3 2.76e-2 ✓ sig.
canonical NF-kappaB signal transduction
HUWE1, IFT80
 GO:0007249 2 / 62 22.3× 3.60e-3 3.13e-2 ✓ sig.
purine nucleoside metabolic process
MACROD2
 GO:0042278 1 / 3 231× 4.33e-3 3.40e-2 ✓ sig.
peptidyl-glutamate ADP-deribosylation
MACROD2
 GO:0140291 1 / 3 231× 4.33e-3 3.40e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Penile disease Urinary system disease 0.158 3 1.49e-8 1.25e-7 ✓ sig.
Alpha thalassemia x-linked intellectual disability X-linked alpha-thalassemia-intellectual disability syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Alpha thalassemia x-linked intellectual disability ATR-X-related syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Atr-x syndrome X-linked alpha-thalassemia-intellectual disability syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Atr-x syndrome ATR-X-related syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Alpha thalassemia x-linked intellectual disability Atr-x syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
ATR-X-related syndrome X-linked alpha-thalassemia-intellectual disability syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Intellectual developmental disorder hypotonic x-linked Say meyer syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Intellectual developmental disorder hypotonic x-linked X-linked alpha-thalassemia-intellectual disability syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
ATR-X-related syndrome Intellectual developmental disorder hypotonic x-linked 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Atr-x syndrome Intellectual developmental disorder hypotonic x-linked 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Alpha thalassemia x-linked intellectual disability Intellectual developmental disorder hypotonic x-linked 0.333 1 1.30e-4 3.90e-4 ✓ sig.
ATR-X-related syndrome Thoracic disease 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Alpha thalassemia x-linked intellectual disability Thoracic disease 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Atr-x syndrome Thoracic disease 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Thoracic disease X-linked alpha-thalassemia-intellectual disability syndrome 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Alpha thalassemia x-linked intellectual disability Penile disease 0.143 1 3.90e-4 8.52e-4 ✓ sig.
Atr-x syndrome Penile disease 0.143 1 3.90e-4 8.52e-4 ✓ sig.
Penile disease X-linked alpha-thalassemia-intellectual disability syndrome 0.143 1 3.90e-4 8.52e-4 ✓ sig.
ATR-X-related syndrome Penile disease 0.143 1 3.90e-4 8.52e-4 ✓ sig.
non-syndromic X-linked intellectual disability Say meyer syndrome 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Intellectual developmental disorder hypotonic x-linked non-syndromic X-linked intellectual disability 0.111 1 9.09e-4 1.56e-3 ✓ sig.
Urinary system disease Urinary tract obstruction 0.063 1 9.74e-4 1.64e-3 ✓ sig.