Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 118856
Gene Symbol: MMP21
MMP21
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		0.100 Biomarker HPO

Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		0.100 Biomarker HPO

Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		0.100 Biomarker HPO

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		0.100 Biomarker HPO

Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		0.100 Biomarker HPO

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		0.100 Biomarker HPO

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		0.100 Biomarker HPO

Entrez Id: 129563
Gene Symbol: DIS3L2
DIS3L2
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		0.100 Biomarker HPO

Entrez Id: 56006
Gene Symbol: SMG9
SMG9
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		0.100 Biomarker HPO

Entrez Id: 1675
Gene Symbol: CFD
CFD
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		0.010 Biomarker BEFREE CFD analysis in IAA can provide a clinical reference, and the results should be further studied in depth in the future. 31197221

2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		0.010 Biomarker BEFREE Prenatal diagnosis of de novo interstitial deletions involving 5q23.1-q23.3 and 18q12.1-q12.3 by array CGH using uncultured amniocytes in a pregnancy with fetal interrupted aortic arch and atrial septal defect. 24036431

2013
Entrez Id: 3198
Gene Symbol: HOXA1
HOXA1
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		0.010 Biomarker BEFREE Hoxa1 null mice show defects such as interrupted aortic arch, aberrant subclavian artery and Tetralogy of Fallot, demonstrating that Hoxa1 is required for patterning of the great arteries and outflow tract of the heart. 21940751

2012
Entrez Id: 2303
Gene Symbol: FOXC2
FOXC2
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		0.010 Biomarker BEFREE MFH-1-deficient mice died embryonically and perinatally, and exhibited interrupted aortic arch and skeletal defects in the neurocranium and the vertebral column. 9409679

1997