Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7525
Gene Symbol: YES1
YES1
0.010 GeneticVariation disease BEFREE Using the 4-YES criteria, the pediatric radiologist excluded malrotation in 71 patients (65%) and the abdominal radiologist excluded it in 65 (60%), with concurrence for 57 patients. 28623416 2017
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
0.010 Biomarker disease BEFREE In murine embryos lacking HDAC3 in the second heart field, increased TGF-β1 bioavailability is associated with ascending aortic dilatation, outflow tract malrotation, overriding aorta, double outlet right ventricle, aberrant semilunar valve development, bicuspid aortic valve, ventricular septal defects, and embryonic lethality. 26420484 2015
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.010 Biomarker disease BEFREE In murine embryos lacking HDAC3 in the second heart field, increased TGF-β1 bioavailability is associated with ascending aortic dilatation, outflow tract malrotation, overriding aorta, double outlet right ventricle, aberrant semilunar valve development, bicuspid aortic valve, ventricular septal defects, and embryonic lethality. 26420484 2015
Entrez Id: 7008
Gene Symbol: TEF
TEF
0.010 Biomarker disease BEFREE These findings indicate that intestinal malrotation is more common in infants with EA/TEF than is generally perceived, and that intestinal malrotation in an infant with EA/TEF is associated with a higher burden of additional congenital anomalies, suggesting that this group of infants may have more pervasive developmental deficits and poorer prognosis than has previously been recognized. 10471893 1999
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
0.100 Biomarker disease HPO
Entrez Id: 8626
Gene Symbol: TP63
TP63
0.100 Biomarker disease HPO
Entrez Id: 1312
Gene Symbol: COMT
COMT
0.100 Biomarker disease HPO
Entrez Id: 90381
Gene Symbol: TICRR
TICRR
0.100 CausalMutation disease CLINVAR
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
0.100 Biomarker disease HPO
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.100 Biomarker disease HPO
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.100 Biomarker disease HPO
Entrez Id: 9968
Gene Symbol: MED12
MED12
0.100 Biomarker disease HPO
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24
0.100 Biomarker disease HPO
Entrez Id: 3670
Gene Symbol: ISL1
ISL1
0.100 Biomarker disease HPO
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF
0.100 Biomarker disease HPO
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B
0.100 Biomarker disease HPO
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
0.100 Biomarker disease HPO
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3
0.100 Biomarker disease HPO
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2
0.100 Biomarker disease HPO
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
0.100 Biomarker disease HPO
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.100 Biomarker disease HPO
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
0.100 GeneticVariation disease CLINVAR
Entrez Id: 57217
Gene Symbol: TTC7A
TTC7A
0.100 Biomarker disease HPO
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
0.100 Biomarker disease HPO
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
0.100 Biomarker disease HPO