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Cluster 41

16 diseases · 30 shared-gene connections
16 Diseases
514 Unique genes
0.069 Avg. similarity score
Tetralogy of fallot 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)

Top shared genes (genes linked to 2+ member diseases ‐ top 100 shown, download for all)

Gene ⇵ Member diseases ⇵ Linked diseases
NKX2-5 7 / 16 Atrial septal defect, Congenital heart disease, Congenital heart septal defect, Conotruncal cardiac defect and 3 more
TBX1 7 / 16 Congenital heart defects, Congenital heart disease, Conotruncal cardiac defect, Craniofacial abnormalities and 3 more
GATA4 6 / 16 Atrial septal defect, Congenital heart defects, Congenital heart disease, Congenital heart septal defect and 2 more
TBX20 6 / 16 Atrial septal defect, Congenital heart disease, Hypoplastic left heart syndrome, Right hypoplastic heart syndrome and 2 more
AHR 5 / 16 Congenital heart defects, Congenital heart disease, Conotruncal cardiac defect, Craniofacial abnormalities and 1 more
CITED2 5 / 16 Atrial septal defect, Congenital heart disease, Congenital heart septal defect, Tetralogy of fallot and 1 more
GATA6 5 / 16 Atrial septal defect, Congenital heart defects, Conotruncal cardiac defect, Tetralogy of fallot and 1 more
MYH6 5 / 16 Atrial septal defect, Congenital heart defects, Congenital heart septal defect, Hypoplastic left heart syndrome and 1 more
FOXP1 4 / 16 Atrial septal defect, Congenital heart defects, Congenital heart disease, Hypoplastic left heart syndrome
GDF1 4 / 16 Congenital heart defects, Congenital heart disease, Conotruncal cardiac defect, Tetralogy of fallot
ISL1 4 / 16 Atrial septal defect, Congenital heart defects, Congenital heart disease, Ventricular septal defect
MYH7 4 / 16 Congenital heart defects, Congenital heart disease, Hypoplastic left heart syndrome, Tetralogy of fallot
NIPBL 4 / 16 Congenital heart defects, Congenital heart disease, Craniofacial abnormalities, Tetralogy of fallot
NKX2-6 4 / 16 Congenital heart disease, Conotruncal cardiac defect, Tetralogy of fallot, Ventricular septal defect
NOTCH1 4 / 16 Congenital heart disease, Craniofacial abnormalities, Hypoplastic left heart syndrome, Tetralogy of fallot
PQBP1 4 / 16 Atrial septal defect, Congenital heart septal defect, Growth disorder, renpenning syndrome
ROBO1 4 / 16 Atrial septal defect, Congenital heart disease, Congenital heart septal defect, Tetralogy of fallot
TBX5 4 / 16 Atrial septal defect, Congenital heart disease, Tetralogy of fallot, Ventricular septal defect
TGFB2 4 / 16 Atrial septal defect, Congenital heart defects, Congenital heart disease, Craniofacial abnormalities
ABL1 3 / 16 Congenital heart defects, Congenital heart disease, Tetralogy of fallot
CERS1 3 / 16 Congenital heart defects, Congenital heart disease, Tetralogy of fallot
CRELD1 3 / 16 Congenital heart disease, Tetralogy of fallot, Ventricular septal defect
CRIPTO 3 / 16 Congenital heart defects, Congenital heart disease, Tetralogy of fallot
FLNA 3 / 16 Congenital heart defects, Tetralogy of fallot, Ventricular septal defect
FOXH1 3 / 16 congenital heart disease, Conotruncal cardiac defect, Tetralogy of fallot
FOXP2 3 / 16 Congenital heart disease, Conotruncal cardiac defect, Craniofacial abnormalities
GATA5 3 / 16 Congenital heart disease, Tetralogy of fallot, Ventricular septal defect
HAND1 3 / 16 Congenital heart disease, Hypoplastic left heart syndrome, Tetralogy of fallot
HAND2 3 / 16 Congenital heart defects, Congenital heart disease, Tetralogy of fallot
IRX4 3 / 16 Congenital heart disease, Tetralogy of fallot, Ventricular septal defect
LEFTY2 3 / 16 Congenital heart defects, Congenital heart disease, Tetralogy of fallot
MCTP2 3 / 16 Chromosome 15q deletion syndrome, Congenital heart disease, Tetralogy of fallot
NFATC1 3 / 16 Congenital heart defects, Congenital heart disease, Ventricular septal defect
PITX2 3 / 16 Congenital heart defects, Congenital heart disease, Craniofacial abnormalities
RBFOX2 3 / 16 Congenital heart disease, Hypoplastic left heart syndrome, Tetralogy of fallot
RCAN1 3 / 16 Congenital heart defects, Congenital heart disease, Craniofacial abnormalities
SALL4 3 / 16 Congenital heart septal defect, Craniofacial abnormalities, Ventricular septal defect
SMARCA4 3 / 16 Atrial septal defect, Tetralogy of fallot, Ventricular septal defect
STRA6 3 / 16 Congenital heart defects, Congenital heart disease, Craniofacial abnormalities
TLL1 3 / 16 Atrial septal defect, Congenital heart disease, Tetralogy of fallot
UFD1 3 / 16 Congenital heart defects, Congenital heart disease, Craniofacial abnormalities
ZIC3 3 / 16 Congenital heart disease, Craniofacial abnormalities, Tetralogy of fallot
ACTC1 2 / 16 Atrial septal defect, Tetralogy of fallot
ADAM29 2 / 16 Congenital heart disease, Conotruncal cardiac defect
ADAMTS19 2 / 16 Congenital heart defects, Congenital heart disease
AFF4 2 / 16 Congenital heart defects, Growth disorder
ANKRD1 2 / 16 Congenital heart disease, Tetralogy of fallot
ANKRD11 2 / 16 Congenital heart disease, Tetralogy of fallot
ATRX 2 / 16 Craniofacial abnormalities, Growth disorder
BMP2 2 / 16 Atrial septal defect, Ventricular septal defect
BMP7 2 / 16 Congenital heart disease, Ventricular septal defect
BMPR1A 2 / 16 Congenital heart disease, Craniofacial abnormalities
BRAF 2 / 16 Tetralogy of fallot, Ventricular septal defect
CARTPT 2 / 16 Congenital heart disease, Conotruncal cardiac defect
CDH13 2 / 16 Congenital heart disease, Conotruncal cardiac defect
CDK13 2 / 16 Congenital heart defects, Congenital heart disease
CFAP53 2 / 16 Hypoplastic left heart syndrome, Tetralogy of fallot
CHD7 2 / 16 Atrial septal defect, Tetralogy of fallot
CNTN4 2 / 16 Craniofacial abnormalities, Growth disorder
COL11A2 2 / 16 Congenital heart defects, Craniofacial abnormalities
COL1A2 2 / 16 Congenital heart disease, Ventricular septal defect
COL2A1 2 / 16 Congenital heart defects, Craniofacial abnormalities
CTSG 2 / 16 Congenital heart disease, Conotruncal cardiac defect
CUL9 2 / 16 Atrial septal defect, Ventricular septal defect
DCHS1 2 / 16 Congenital heart disease, Tetralogy of fallot
DDB1 2 / 16 Congenital heart defects, White-kernohan syndrome
DNMT3A 2 / 16 Craniofacial abnormalities, Growth disorder
ECE1 2 / 16 Congenital heart defects, Craniofacial abnormalities
EDN1 2 / 16 Congenital heart defects, Craniofacial abnormalities
EDNRA 2 / 16 Congenital heart defects, Craniofacial abnormalities
EPO 2 / 16 Congenital heart septal defect, Ventricular septal defect
ERCC6 2 / 16 Craniofacial abnormalities, Growth disorder
ETV2 2 / 16 Congenital heart defects, Hypoplastic left heart syndrome
EYA1 2 / 16 Congenital heart defects, Craniofacial abnormalities
FBN2 2 / 16 Tetralogy of fallot, Ventricular septal defect
FGD1 2 / 16 Craniofacial abnormalities, Growth disorder
FGF8 2 / 16 Congenital heart disease, Craniofacial abnormalities
FLT4 2 / 16 Congenital heart disease, Tetralogy of fallot
FOLR1 2 / 16 Congenital heart defects, Craniofacial abnormalities
FOXC2 2 / 16 Craniofacial abnormalities, Tetralogy of fallot
FOXL1 2 / 16 Congenital heart disease, Tetralogy of fallot
GJA1 2 / 16 Congenital heart disease, Hypoplastic left heart syndrome
GJA5 2 / 16 Congenital heart disease, Tetralogy of fallot
GNAQ 2 / 16 Congenital heart defects, Craniofacial abnormalities
GP1BB 2 / 16 Congenital heart defects, Craniofacial abnormalities
H4C3 2 / 16 Craniofacial abnormalities, Growth disorder
HEY2 2 / 16 Congenital heart disease, Tetralogy of fallot
HOXA1 2 / 16 Congenital heart defects, Craniofacial abnormalities
HOXA3 2 / 16 Congenital heart defects, Craniofacial abnormalities
HSPBAP1 2 / 16 Atrial septal defect, Congenital heart septal defect
HUWE1 2 / 16 Atrial septal defect, Ventricular septal defect
IDH2 2 / 16 Craniofacial abnormalities, Growth disorder
IQCJ 2 / 16 Congenital heart disease, Conotruncal cardiac defect
IQCJ-SCHIP1 2 / 16 Congenital heart disease, Conotruncal cardiac defect
IRX5 2 / 16 Congenital heart defects, Craniofacial abnormalities
JAG1 2 / 16 Congenital heart defects, Tetralogy of fallot
KCNN2 2 / 16 Congenital heart disease, Congenital heart septal defect
KDM5A 2 / 16 Congenital heart disease, El-hayek-chahrour neurodevelopmental syndrome
LPAR1 2 / 16 Craniofacial abnormalities, Growth disorder
LRP2 2 / 16 Congenital heart disease, Craniofacial abnormalities
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 ⇵
TGF-beta signaling pathway KEGG 29 / 108 6.3× 6.74e-16 2.67e-13 ✓ sig.
Pathways in cancer KEGG 66 / 533 2.9× 3.10e-15 1.09e-12 ✓ sig.
Signaling pathways regulating pluripotency of stem cells KEGG 32 / 144 5.2× 7.65e-15 2.48e-12 ✓ sig.
Proteoglycans in cancer KEGG 33 / 204 3.8× 3.37e-11 5.38e-9 ✓ sig.
Breast cancer KEGG 26 / 148 4.1× 6.84e-10 7.99e-8 ✓ sig.
Hepatocellular carcinoma KEGG 28 / 170 3.8× 7.02e-10 8.17e-8 ✓ sig.
Thyroid hormone signaling pathway KEGG 22 / 122 4.2× 8.65e-9 7.72e-7 ✓ sig.
Signaling by BMP Reactome 11 / 28 9.2× 8.79e-9 7.82e-7 ✓ sig.
Gastric cancer KEGG 24 / 150 3.7× 2.11e-8 1.69e-6 ✓ sig.
Fluid shear stress and atherosclerosis KEGG 23 / 141 3.8× 2.87e-8 2.21e-6 ✓ sig.
Adherens junction KEGG 18 / 93 4.5× 6.35e-8 4.42e-6 ✓ sig.
Chronic myeloid leukemia KEGG 16 / 77 4.9× 1.22e-7 7.80e-6 ✓ sig.
Focal adhesion KEGG 27 / 203 3.1× 1.51e-7 9.35e-6 ✓ sig.
Molecules associated with elastic fibres Reactome 11 / 38 6.8× 3.33e-7 1.88e-5 ✓ sig.
Cytoskeleton in muscle cells KEGG 28 / 232 2.8× 6.81e-7 3.48e-5 ✓ 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 ⇵
heart development GO:0007507 75 / 273 10.0× 9.01e-54 2.25e-49 ✓ sig.
positive regulation of transcription by RNA polymerase II GO:0045944 130 / 1,208 3.9× 1.91e-43 2.91e-39 ✓ sig.
skeletal system development GO:0001501 47 / 151 11.3× 1.32e-36 1.13e-32 ✓ sig.
positive regulation of DNA-templated transcription GO:0045893 93 / 778 4.3× 3.65e-34 2.60e-30 ✓ sig.
negative regulation of transcription by RNA polymerase II GO:0000122 105 / 1,002 3.8× 1.31e-33 8.96e-30 ✓ sig.
outflow tract morphogenesis GO:0003151 31 / 63 17.9× 6.93e-32 4.18e-28 ✓ sig.
heart morphogenesis GO:0003007 28 / 61 16.7× 8.03e-28 3.60e-24 ✓ sig.
outflow tract septum morphogenesis GO:0003148 21 / 28 27.3× 1.12e-27 4.83e-24 ✓ sig.
regulation of DNA-templated transcription GO:0006355 117 / 1,454 2.9× 6.18e-27 2.46e-23 ✓ sig.
lung development GO:0030324 34 / 108 11.4× 6.12e-27 2.46e-23 ✓ sig.
regulation of transcription by RNA polymerase II GO:0006357 120 / 1,602 2.7× 6.85e-25 2.14e-21 ✓ sig.
blood vessel development GO:0001568 26 / 70 13.5× 5.18e-23 1.28e-19 ✓ sig.
roof of mouth development GO:0060021 26 / 70 13.5× 5.18e-23 1.28e-19 ✓ sig.
cell differentiation GO:0030154 91 / 1,051 3.1× 5.85e-23 1.43e-19 ✓ sig.
positive regulation of gene expression GO:0010628 60 / 504 4.3× 5.74e-22 1.23e-18 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Congenital heart disease Tetralogy of fallot 0.186 45 1.96e-59 1.26e-57 ✓ sig.
Congenital heart defects Congenital heart disease 0.120 26 1.85e-33 6.71e-32 ✓ sig.
Congenital heart defects Craniofacial abnormalities 0.097 20 3.90e-24 9.63e-23 ✓ sig.
Tetralogy of fallot Ventricular septal defect 0.106 15 3.55e-22 7.86e-21 ✓ sig.
Atrial septal defect Tetralogy of fallot 0.103 14 1.33e-21 2.87e-20 ✓ sig.
Atrial septal defect Ventricular septal defect 0.164 11 5.93e-21 1.25e-19 ✓ sig.
Congenital heart defects Tetralogy of fallot 0.095 16 4.88e-20 9.85e-19 ✓ sig.
Craniofacial abnormalities Growth disorder 0.079 14 1.28e-19 2.53e-18 ✓ sig.
Congenital heart disease Ventricular septal defect 0.075 15 2.15e-19 4.17e-18 ✓ sig.
Atrial septal defect Congenital heart septal defect 0.174 8 1.30e-17 2.31e-16 ✓ sig.
Congenital heart disease Conotruncal cardiac defect 0.068 15 2.17e-16 3.61e-15 ✓ sig.
Hypoplastic left heart syndrome Tetralogy of fallot 0.073 9 2.23e-15 3.43e-14 ✓ sig.
Congenital heart septal defect Ventricular septal defect 0.130 7 2.07e-14 2.99e-13 ✓ sig.
Congenital heart disease Craniofacial abnormalities 0.054 17 1.69e-12 2.08e-11 ✓ sig.
Atrial septal defect Congenital heart defects 0.060 6 1.04e-8 8.78e-8 ✓ sig.
Congenital heart defects Hypoplastic left heart syndrome 0.060 5 1.37e-8 1.15e-7 ✓ sig.
Atrial septal defect Hypoplastic left heart syndrome 0.080 4 6.69e-8 5.11e-7 ✓ sig.
Conotruncal cardiac defect Tetralogy of fallot 0.041 7 3.98e-7 2.64e-6 ✓ sig.
Conotruncal cardiac defect Ventricular septal defect 0.039 4 2.53e-5 1.25e-4 ✓ sig.
Congenital heart septal defect renpenning syndrome 0.053 1 1.17e-3 1.88e-3 ✓ sig.
Hypoplastic left heart syndrome Right hypoplastic heart syndrome 0.053 1 1.17e-3 1.88e-3 ✓ sig.
Atrial septal defect renpenning syndrome 0.028 1 2.27e-3 3.18e-3 ✓ sig.
Growth disorder renpenning syndrome 0.028 1 2.27e-3 3.18e-3 ✓ sig.
Atrial septal defect Right hypoplastic heart syndrome 0.028 1 2.27e-3 3.18e-3 ✓ sig.
Right hypoplastic heart syndrome Ventricular septal defect 0.023 1 2.73e-3 3.65e-3 ✓ sig.
Congenital heart defects White-kernohan syndrome 0.014 1 4.55e-3 5.66e-3 ✓ sig.
Chromosome 15q deletion syndrome Tetralogy of fallot 0.009 1 7.40e-3 8.70e-3 ✓ sig.
Tetralogy of fallot Truncus arteriosus 0.009 1 7.40e-3 8.70e-3 ✓ sig.
Congenital heart disease El-hayek-chahrour neurodevelopmental syndrome 0.006 1 1.12e-2 1.26e-2 ✓ sig.
Chromosome 15q deletion syndrome Congenital heart disease 0.006 1 1.12e-2 1.26e-2 ✓ sig.