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Hypoplastic left heart syndrome
Hypoplastic left heart syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
HYPOPLASTIC LEFT HEART SYNDROME
C0152101
ETV2
Causal
—
Disgenet
—
MYH6
Causal
—
Disgenet
cGMP-PKG signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Motor proteins
Cytoskeleton in muscle cells
Thyroid hormone signaling pathway
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis
Striated Muscle Contraction
+7 more
NOTCH1
Causal
—
Disgenet
Endocrine resistance
Notch signaling pathway
Th1 and Th2 cell differentiation
Thyroid hormone signaling pathway
Prion disease
Human papillomavirus infection
Pathways in cancer
MicroRNAs in cancer
Breast cancer
Pre-NOTCH Transcription and Translation
Pre-NOTCH Processing in Golgi
NOTCH1 Intracellular Domain Regulates Transcription
Activated NOTCH1 Transmits Signal to the Nucleus
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Notch-HLH transcription pathway
Defective LFNG causes SCDO3
RUNX3 regulates NOTCH signaling
NOTCH3 Intracellular Domain Regulates Transcription
NOTCH4 Intracellular Domain Regulates Transcription
+20 more
TBX20
Causal
—
Disgenet
—
All
18
Causal
4
Unknown
14
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
4
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Hypoplastic left heart syndrome.
5
View disease cluster →
Atrial septal defect
4 shared genes
FOXP1, MYH6, TBX20, NKX2-5
Related via 4 shared genes including FOXP1, MYH6, TBX20.
Tetralogy of fallot
9 shared genes
TBX1, NOTCH1, HAND1, RBFOX2, MYH6, TBX20, NKX2-5, MYH7, CFAP53
Related via 9 shared genes including TBX1, NOTCH1, HAND1.
Atrioventricular septal defect
2 shared genes
FOXP1, GJA1
Related via 2 shared genes including FOXP1, GJA1.
Bicuspid aortic valve
2 shared genes
NOTCH1, NKX2-5
Related via 2 shared genes including NOTCH1, NKX2-5.
Congenital heart defects
5 shared genes
TBX1, FOXP1, MYH6, MYH7, ETV2
Related via 5 shared genes including TBX1, FOXP1, MYH6.
1
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