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 41
16
Diseases
514
Unique genes
0.069
Avg. similarity score
Tetralogy of fallot
Most-connected disease (8 links)
Disease
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Tetralogy of fallot
Atrial septal defect
Congenital heart disease
Congenital heart defects
Ventricular septal defect
Hypoplastic left heart syndrome
Congenital heart septal defect
Conotruncal cardiac defect
Craniofacial abnormalities
Right hypoplastic heart syndrome
renpenning syndrome
Chromosome 15q deletion syndrome
Growth disorder
El-hayek-chahrour neurodevelopmental syndrome
Truncus arteriosus
White-kernohan syndrome
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Tetralogy of fallot | 8 | 8 | 114 |
| Atrial septal defect | 7 | 7 | 35 |
| Congenital heart disease | 7 | 7 | 172 |
| Congenital heart defects | 6 | 6 | 70 |
| Ventricular septal defect | 6 | 6 | 42 |
| Hypoplastic left heart syndrome | 4 | 4 | 18 |
| Congenital heart septal defect | 3 | 3 | 18 |
| Conotruncal cardiac defect | 3 | 3 | 63 |
| Craniofacial abnormalities | 3 | 3 | 156 |
| Right hypoplastic heart syndrome | 3 | 3 | 1 |
| renpenning syndrome | 3 | 3 | 1 |
| Chromosome 15q deletion syndrome | 2 | 2 | 1 |
| Growth disorder | 2 | 2 | 35 |
| El-hayek-chahrour neurodevelopmental syndrome | 1 | 1 | 1 |
| Truncus arteriosus | 1 | 1 | 1 |
| White-kernohan syndrome | 1 | 1 | 1 |
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. |