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 195

8 diseases · 11 shared-gene connections
8 Diseases
22 Unique genes
0.151 Avg. similarity score
Rubinstein-taybi 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 ⇵
Rubinstein-taybi syndrome 6 6 8
Congenital malformation syndromes predominantly involving limbs 4 4 2
Vacterl association 4 4 16
Waardenburg anophthalmia syndrome 3 3 1
Congenital cleft hand 2 2 1
Chromosome 16p13.3 deletion syndrome 1 1 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 1 1
fanconi anemia complementation group l 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
DLX5 4 / 8 Congenital cleft hand, Congenital malformation syndromes predominantly involving limbs, Rubinstein-taybi syndrome, Vacterl association
SMOC1 4 / 8 Congenital malformation syndromes predominantly involving limbs, Rubinstein-taybi syndrome, Vacterl association, Waardenburg anophthalmia syndrome
CREBBP 2 / 8 Chromosome 16p13.3 deletion syndrome, Rubinstein-taybi syndrome
EP300 2 / 8 Rubinstein-taybi syndrome, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
FANCL 2 / 8 fanconi anemia complementation group l, Vacterl association
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 ⇵
NOTCH4 Intracellular Domain Regulates Transcription
CREBBP, EP300, NOTCH2
 Reactome 3 / 17 96.3× 3.57e-6 1.44e-4 ✓ sig.
Pre-NOTCH Transcription and Translation
CREBBP, EP300, NOTCH2
 Reactome 3 / 31 52.8× 2.32e-5 6.74e-4 ✓ sig.
LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
CREBBP, EP300
 Reactome 2 / 5 218× 3.19e-5 8.80e-4 ✓ sig.
Regulation of FOXO transcriptional activity by acetylation
CREBBP, EP300
 Reactome 2 / 7 156× 6.69e-5 1.62e-3 ✓ sig.
Regulation of gene expression by Hypoxia-inducible Factor
CREBBP, EP300
 Reactome 2 / 11 99.3× 1.74e-4 3.51e-3 ✓ sig.
Notch signaling pathway
CREBBP, EP300, NOTCH2
 KEGG 3 / 62 26.4× 1.88e-4 3.73e-3 ✓ sig.
Activation of the TFAP2 (AP-2) family of transcription factors
CREBBP, EP300
 Reactome 2 / 12 91.0× 2.09e-4 4.04e-3 ✓ sig.
NOTCH1 Intracellular Domain Regulates Transcription
CREBBP, EP300
 Reactome 2 / 13 84.0× 2.47e-4 4.60e-3 ✓ sig.
POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
SALL1, ZIC3
 Reactome 2 / 13 84.0× 2.47e-4 4.60e-3 ✓ sig.
RUNX3 regulates NOTCH signaling
CREBBP, EP300
 Reactome 2 / 14 78.0× 2.88e-4 5.19e-3 ✓ sig.
Attenuation phase
CREBBP, EP300
 Reactome 2 / 14 78.0× 2.88e-4 5.19e-3 ✓ sig.
TRAF3-dependent IRF activation pathway
CREBBP, EP300
 Reactome 2 / 14 78.0× 2.88e-4 5.19e-3 ✓ sig.
Polycomb repressive complex
CREBBP, ASXL1, EP300
 KEGG 3 / 83 19.7× 4.46e-4 7.29e-3 ✓ sig.
NOTCH3 Intracellular Domain Regulates Transcription
CREBBP, EP300
 Reactome 2 / 18 60.7× 4.81e-4 7.74e-3 ✓ sig.
RORA activates gene expression
CREBBP, EP300
 Reactome 2 / 18 60.7× 4.81e-4 7.74e-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 ⇵
positive regulation of transcription by RNA polymerase II
CREBBP, DLX5, ASXL1, KMT2A, KMT2D, EP300, PTEN, SALL1, ZIC3, CDH13, FOXF1, HOXD13
 GO:0045944 13 / 1,208 9.1× 9.29e-11 2.68e-8 ✓ sig.
heart development
EP300, PTEN, SALL1, ZIC3, FOXF1, PCSK5
 GO:0007507 6 / 273 18.7× 5.64e-7 5.18e-5 ✓ sig.
embryonic digestive tract development
SALL1, FOXF1, PCSK5
 GO:0048566 3 / 19 134× 1.36e-6 1.06e-4 ✓ sig.
positive regulation of DNA-templated transcription
CREBBP, DLX5, KMT2A, EP300, SALL1, ZIC3, FAM170A, FOXF1
 GO:0045893 8 / 778 8.7× 1.66e-6 1.24e-4 ✓ sig.
N-terminal peptidyl-lysine acetylation
CREBBP, EP300
 GO:0018076 2 / 3 566× 3.97e-6 2.49e-4 ✓ sig.
limb morphogenesis
ZIC3, HOXD13, PCSK5
 GO:0035108 3 / 31 82.2× 6.23e-6 3.57e-4 ✓ sig.
anterior/posterior pattern specification
KMT2A, ZIC3, HOXD13, PCSK5
 GO:0009952 4 / 112 30.3× 8.23e-6 4.48e-4 ✓ sig.
animal organ morphogenesis
ASXL1, EP300, FOXF1, NOTCH2
 GO:0009887 4 / 130 26.1× 1.48e-5 7.12e-4 ✓ sig.
olfactory bulb interneuron differentiation
DLX5, SALL1
 GO:0021889 2 / 6 283× 1.98e-5 8.90e-4 ✓ sig.
regulation of DNA-templated transcription
CREBBP, DLX5, ASXL1, KMT2A, KMT2D, EP300, FOXF1, HOXD13, NOTCH2
 GO:0006355 9 / 1,454 5.3× 2.00e-5 8.97e-4 ✓ sig.
respiratory tube development
FOXF1, PCSK5
 GO:0030323 2 / 7 243× 2.77e-5 1.15e-3 ✓ sig.
embryonic digit morphogenesis
CREBBP, SALL1, HOXD13
 GO:0042733 3 / 57 44.7× 3.98e-5 1.51e-3 ✓ sig.
embryonic limb morphogenesis
DLX5, HOXD13, NOTCH2
 GO:0030326 3 / 59 43.2× 4.41e-5 1.64e-3 ✓ sig.
podocyte development
ASXL1, NOTCH2
 GO:0072015 2 / 9 189× 4.74e-5 1.73e-3 ✓ sig.
protein acetylation
CREBBP, EP300
 GO:0006473 2 / 13 131× 1.02e-4 3.07e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Congenital malformation syndromes predominantly involving limbs Rubinstein-taybi syndrome 0.222 2 2.36e-7 1.64e-6 ✓ sig.
Congenital malformation syndromes predominantly involving limbs Vacterl association 0.118 2 1.01e-6 6.28e-6 ✓ sig.
Rubinstein-taybi syndrome Vacterl association 0.087 2 2.82e-5 1.39e-4 ✓ sig.
Congenital cleft hand Congenital malformation syndromes predominantly involving limbs 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Congenital malformation syndromes predominantly involving limbs Waardenburg anophthalmia syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Chromosome 16p13.3 deletion syndrome Rubinstein-taybi syndrome 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Congenital cleft hand Rubinstein-taybi syndrome 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Rubinstein-taybi syndrome Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Rubinstein-taybi syndrome Waardenburg anophthalmia syndrome 0.111 1 5.20e-4 1.04e-3 ✓ sig.
fanconi anemia complementation group l Vacterl association 0.059 1 1.04e-3 1.72e-3 ✓ sig.
Vacterl association Waardenburg anophthalmia syndrome 0.059 1 1.04e-3 1.72e-3 ✓ sig.