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 42

16 diseases · 29 shared-gene connections
16 Diseases
519 Unique genes
0.070 Avg. similarity score
Atrial septal defect Most-connected disease (8 links)
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Disease Searched: Renpenning syndrome 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 ⇵
Atrial septal defect 8 8 35
Tetralogy of fallot 7 7 114
Congenital heart disease 6 6 178
Ventricular septal defect 6 6 42
Congenital heart defects 5 5 71
Craniofacial abnormalities 4 4 156
Congenital heart septal defect 3 3 19
Conotruncal cardiac defect 3 3 63
Hypoplastic left heart syndrome 3 3 18
Renpenning syndrome 3 3 1
Right hypoplastic heart syndrome 3 3 1
Chromosome 15q deletion syndrome 2 2 1
Growth disorder 2 2 35
Bafopathy 1 1 1
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 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
PRKD1 3 / 16 Congenital heart defects, Congenital heart disease, Tetralogy of fallot
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
ACTL6A 2 / 16 Atrial septal defect, Bafopathy
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
GSC 2 / 16 Craniofacial abnormalities, Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
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
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
BMP2, TGFB2, BMP4, LEFTY2, MAPK1, PITX2, SMAD6, BMPR1A, BMP7, SMAD2, ACVR1, BMPR2
 KEGG 29 / 108 6.2× 8.71e-16 3.02e-13 ✓ sig.
Pathways in cancer
BMP2, TGFB2, BMP4, SOS1, ABL1, EDN1, EDNRA, GNA11, GNAQ, GSTM1, GSTP1, GSTT1
 KEGG 67 / 533 2.9× 1.43e-15 4.79e-13 ✓ sig.
Signaling pathways regulating pluripotency of stem cells
BMP4, ISL1, HOXA1, KLF4, LEFTY2, MAPK1, POU5F1, BMPR1A, ZIC3, SMAD2, ACVR1, BMPR2
 KEGG 32 / 144 5.1× 1.00e-14 2.85e-12 ✓ sig.
Proteoglycans in cancer
TGFB2, SOS1, CAV3, FLNA, HIF1A, MAPK1, VEGFA, SMAD2, COL1A1, COL1A2, PTCH1, ROCK2
 KEGG 34 / 204 3.9× 9.31e-12 1.43e-9 ✓ sig.
Breast cancer
SOS1, JAG1, MAPK1, NOTCH1, FGF10, FLT4, FGF8, HEY1, HEY2, CSNK1A1, CTNNB1, DLL3
 KEGG 26 / 148 4.1× 8.42e-10 7.96e-8 ✓ sig.
Hepatocellular carcinoma
ACTL6A, TGFB2, SMARCA4, SOS1, GSTM1, GSTP1, GSTT1, MAPK1, SMAD2, ACTB, ACTG1, CSNK1A1
 KEGG 28 / 170 3.8× 8.74e-10 8.24e-8 ✓ sig.
Signaling by BMP
BMP2, SMAD6, BMPR1A, BMP10, BMPR2, SMAD1, SMAD7, BMPR1B, SKI, SMAD4, ACVR2B
 Reactome 11 / 28 9.1× 9.72e-9 7.21e-7 ✓ sig.
Thyroid hormone signaling pathway
GATA4, MYH6, BMP4, HIF1A, MAPK1, MYH7, NOTCH1, RCAN1, HDAC1, MED13L, RXRA, ACTB
 KEGG 22 / 122 4.2× 1.03e-8 7.61e-7 ✓ sig.
Gastric cancer
TGFB2, SOS1, MAPK1, FGF10, SMAD2, CTNNA3, FGF8, RXRA, CSNK1A1, CTNNB1, EGFR, FGF3
 KEGG 24 / 150 3.7× 2.54e-8 1.69e-6 ✓ sig.
Fluid shear stress and atherosclerosis
BMP4, CAV3, EDN1, GSTM1, GSTP1, GSTT1, VEGFA, BMPR1A, ACVR1, BMPR2, ACTB, ACTG1
 KEGG 23 / 141 3.8× 3.43e-8 2.20e-6 ✓ sig.
Adherens junction
MAPK1, CTNNA3, MYL2, ROCK2, SNAI1, ACTB, ACTG1, CTNNB1, EGFR, EP300, FGFR1, RHOA
 KEGG 18 / 93 4.5× 7.35e-8 4.27e-6 ✓ sig.
Chronic myeloid leukemia
TGFB2, SOS1, ABL1, MAPK1, CRKL, HDAC1, SMAD3, SMAD4, TGFBR2, TP53, CBL, PIK3CA
 KEGG 16 / 77 4.8× 1.39e-7 7.49e-6 ✓ sig.
Focal adhesion
MYLK, SOS1, CAV3, COL2A1, FLNA, MAPK1, VEGFA, FLT4, COL1A1, COL1A2, CRKL, MYL2
 KEGG 27 / 203 3.1× 1.83e-7 9.48e-6 ✓ sig.
Molecules associated with elastic fibres
BMP2, TGFB2, BMP4, BMP7, BMP10, FBLN2, LTBP1, LTBP3, ELN, FBN1, FBN2
 Reactome 11 / 38 6.7× 3.67e-7 1.74e-5 ✓ sig.
Cytoskeleton in muscle cells
TPM1, MYH6, ACTC1, DMD, COL11A2, MYH7, XIRP2, ANKRD1, COL1A1, COL1A2, CSRP1, DTNA
 KEGG 28 / 232 2.8× 8.27e-7 3.52e-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
BMP2, TBX5, TGFB2, GATA4, NKX2-5, CITED2, BMP4, ISL1, DYNC2H1, ECE1, EDN1, EDNRA
 GO:0007507 75 / 273 9.9× 1.87e-53 5.08e-49 ✓ sig.
positive regulation of transcription by RNA polymerase II
BMP2, TBX5, GATA4, TBX20, NKX2-5, CITED2, GATA6, BMP4, CHD7, ISL1, SMARCA4, TBX2
 GO:0045944 131 / 1,208 3.9× 1.12e-43 1.49e-39 ✓ sig.
skeletal system development
BMP2, TGFB2, TLL1, BMP4, CHD7, COL11A2, COL2A1, EDN1, GDF3, GNA11, UFD1, ZIC3
 GO:0001501 47 / 151 11.2× 2.07e-36 1.85e-32 ✓ sig.
positive regulation of DNA-templated transcription
ACTL6A, BMP2, TBX5, GATA4, TBX20, NKX2-5, CITED2, GATA6, BMP4, PQBP1, SMARCA4, TBX2
 GO:0045893 94 / 778 4.4× 1.44e-34 1.05e-30 ✓ sig.
negative regulation of transcription by RNA polymerase II
BMP2, FOXP1, GATA4, TBX20, NKX2-5, CITED2, GATA6, BMP4, HDAC8, ISL1, SMARCA4, TBX2
 GO:0000122 106 / 1,002 3.8× 6.40e-34 4.60e-30 ✓ sig.
outflow tract morphogenesis
TGFB2, TBX20, NKX2-5, CITED2, BMP4, ISL1, TBX2, EYA1, HAND2, HIF1A, NIPBL, NOTCH1
 GO:0003151 31 / 63 17.7× 9.36e-32 6.25e-28 ✓ sig.
heart morphogenesis
BMP2, TGFB2, NKX2-5, BMP4, CHD7, ISL1, SOS1, TBX2, COL2A1, HAND2, NIPBL, TBX1
 GO:0003007 29 / 61 17.1× 3.23e-29 1.78e-25 ✓ sig.
outflow tract septum morphogenesis
ROBO1, TGFB2, TBX20, NKX2-5, GATA6, BMP4, ISL1, TBX2, SMAD6, TBX1, BMPR1A, ACVR1
 GO:0003148 21 / 28 27.0× 1.37e-27 6.01e-24 ✓ sig.
lung development
TBX5, BMP4, NOTCH1, PITX2, STRA6, VEGFA, BMPR1A, FGF10, ZIC3, SMAD2, BMPR2, FGF8
 GO:0030324 34 / 108 11.3× 8.43e-27 3.38e-23 ✓ sig.
regulation of DNA-templated transcription
ACTL6A, BMP2, FOXP1, TBX5, GATA4, TBX20, NKX2-5, CITED2, GATA6, CHD7, ISL1, MN1
 GO:0006355 117 / 1,454 2.9× 1.53e-26 5.88e-23 ✓ sig.
regulation of transcription by RNA polymerase II
ACTL6A, FOXP1, TBX5, GATA4, TBX20, NKX2-5, CITED2, GATA6, SMARCA4, SOS1, TBX2, AHR
 GO:0006357 120 / 1,602 2.7× 1.69e-24 4.79e-21 ✓ sig.
cell differentiation
ROBO1, BMP2, GATA4, TLL1, NKX2-5, CITED2, GATA6, BMP4, CYFIP1, HUWE1, ISL1, CAV3
 GO:0030154 92 / 1,051 3.2× 3.05e-23 7.68e-20 ✓ sig.
blood vessel development
TGFB2, CITED2, BMP4, CHD7, AHR, HIF1A, STRA6, TBX1, VEGFA, BMPR2, COL1A1, COL1A2
 GO:0001568 26 / 70 13.4× 6.62e-23 1.57e-19 ✓ sig.
roof of mouth development
CHD7, SOS1, TBX2, COL11A2, COL2A1, HAND2, WDPCP, BMPR1A, OSR1, PDGFRA, SNAI1, TCF21
 GO:0060021 26 / 70 13.4× 6.62e-23 1.57e-19 ✓ sig.
positive regulation of gene expression
ROBO1, BMP2, TGFB2, ACTC1, NKX2-5, CITED2, BMP4, RPL5, ETV2, HAND2, HIF1A, IRX1
 GO:0010628 61 / 504 4.4× 1.77e-22 4.01e-19 ✓ 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 0.193 47 4.99e-63 1.54e-61 ✓ sig.
Congenital heart defects Congenital heart disease 0.121 27 1.06e-34 2.29e-33 ✓ sig.
Congenital heart defects Craniofacial abnormalities 0.097 20 4.20e-24 6.99e-23 ✓ sig.
Congenital heart defects Tetralogy of fallot 0.102 17 8.59e-22 1.33e-20 ✓ sig.
Atrial septal defect Tetralogy of fallot 0.104 14 9.44e-22 1.46e-20 ✓ sig.
Atrial septal defect Ventricular septal defect 0.167 11 4.11e-21 6.25e-20 ✓ sig.
Tetralogy of fallot Ventricular septal defect 0.100 14 1.38e-20 2.07e-19 ✓ sig.
Craniofacial abnormalities Growth disorder 0.080 14 6.52e-20 9.49e-19 ✓ sig.
Congenital heart disease Ventricular septal defect 0.073 15 2.17e-19 3.10e-18 ✓ sig.
Atrial septal defect Congenital heart septal defect 0.170 8 2.13e-17 2.84e-16 ✓ sig.
Congenital heart disease Conotruncal cardiac defect 0.066 15 3.36e-16 4.27e-15 ✓ sig.
Hypoplastic left heart syndrome Tetralogy of fallot 0.074 9 1.80e-15 2.22e-14 ✓ sig.
Congenital heart septal defect Ventricular septal defect 0.130 7 2.61e-14 3.07e-13 ✓ sig.
Congenital heart disease Craniofacial abnormalities 0.054 17 2.42e-12 2.54e-11 ✓ sig.
Atrial septal defect Congenital heart defects 0.059 6 1.09e-8 8.60e-8 ✓ sig.
Atrial septal defect Hypoplastic left heart syndrome 0.080 4 6.54e-8 4.69e-7 ✓ sig.
Conotruncal cardiac defect Tetralogy of fallot 0.041 7 3.39e-7 2.21e-6 ✓ sig.
Conotruncal cardiac defect Ventricular septal defect 0.040 4 2.25e-5 1.17e-4 ✓ sig.
Hypoplastic left heart syndrome Right hypoplastic heart syndrome 0.053 1 1.16e-3 1.73e-3 ✓ sig.
Congenital heart septal defect Renpenning syndrome 0.050 1 1.23e-3 1.81e-3 ✓ sig.
Growth disorder Renpenning syndrome 0.029 1 2.20e-3 2.92e-3 ✓ sig.
Atrial septal defect Bafopathy 0.028 1 2.26e-3 2.99e-3 ✓ sig.
Atrial septal defect Renpenning syndrome 0.028 1 2.26e-3 2.99e-3 ✓ sig.
Atrial septal defect Right hypoplastic heart syndrome 0.028 1 2.26e-3 2.99e-3 ✓ sig.
Right hypoplastic heart syndrome Ventricular septal defect 0.024 1 2.65e-3 3.41e-3 ✓ sig.
Congenital heart defects White-kernohan syndrome 0.014 1 4.58e-3 5.54e-3 ✓ sig.
Chromosome 15q deletion syndrome Tetralogy of fallot 0.009 1 7.23e-3 8.37e-3 ✓ sig.
Craniofacial abnormalities Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 0.006 1 1.00e-2 1.12e-2 ✓ sig.
Chromosome 15q deletion syndrome Congenital heart disease 0.006 1 1.15e-2 1.27e-2 ✓ sig.