×
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