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Conotruncal heart malformations
Conotruncal heart malformations
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Conotruncal heart malformations
MONDO_0016581
GATA6
Causal
14607454
20807224
25380965
25195019
19666519
24421281
17924340
15649947
17891434
Open Targets
Surfactant metabolism
Factors involved in megakaryocyte development and platelet production
NKX2-6
Causal
25380965
19666519
24421281
17924340
15649947
17891434
20807224
25195019
14607454
Open Targets
—
All
6
Causal
2
Unknown
4
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
2
Related Diseases
Diseases that share the most curated genes with Conotruncal heart malformations.
5
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Common arterial trunk with aortic dominance
2 shared genes
TBX1, GATA6
Related via 2 shared genes including TBX1, GATA6.
Common arterial trunk with pulmonary dominance and interrupted aortic arch
2 shared genes
TBX1, GATA6
Related via 2 shared genes including TBX1, GATA6.
Double outlet right ventricle
3 shared genes
ZFPM2, NKX2-5, GDF1
Related via 3 shared genes including ZFPM2, NKX2-5, GDF1.
Chromosome 22q11.2 microduplication syndrome
1 shared gene
TBX1
Related via 1 shared gene including TBX1.
Conotruncal anomaly face syndrome
1 shared gene
TBX1
Related via 1 shared gene including TBX1.
1
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