×
Entrez Id:
93
Gene Symbol:
ACVR2B
ACVR2B
0.500
Biomarker
disease
CTD_human
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.
9916847
1999
×
Entrez Id:
93
Gene Symbol:
ACVR2B
ACVR2B
0.500
Biomarker
disease
MGD
The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouse.
9242489
1997
×
Entrez Id:
10715
Gene Symbol:
CERS1
CERS1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
55997
Gene Symbol:
CFC1
CFC1
0.200
Biomarker
disease
MGD
Conserved requirement for EGF-CFC genes in vertebrate left-right axis formation.
10521397
1999
×
Entrez Id:
55997
Gene Symbol:
CFC1
CFC1
0.200
Biomarker
disease
MGD
A role of the cryptic gene in the correct establishment of the left-right axis.
10574770
1999
×
Entrez Id:
653275
Gene Symbol:
CFC1B
CFC1B
0.200
Biomarker
disease
MGD
A role of the cryptic gene in the correct establishment of the left-right axis.
10574770
1999
×
Entrez Id:
653275
Gene Symbol:
CFC1B
CFC1B
0.200
Biomarker
disease
MGD
Conserved requirement for EGF-CFC genes in vertebrate left-right axis formation.
10521397
1999
×
Entrez Id:
1767
Gene Symbol:
DNAH5
DNAH5
0.010
GeneticVariation
disease
BEFREE
The mutation of p.Glu2610Gly in DNAH5 is novel and we here present a first Japanese case of asplenia syndrome who exhibited a DNAH5 mutation.
24912412
2015
×
Entrez Id:
8928
Gene Symbol:
FOXH1
FOXH1
0.010
Biomarker
disease
BEFREE
Mutations in genes involving left-right (L-R) asymmetry, such as NODAL, ACTRIIB and downstream target FOXH1 , have been found in patients with right isomerism as well as in isolated TGA.
27329052
2016
×
Entrez Id:
2657
Gene Symbol:
GDF1
GDF1
0.600
CausalMutation
disease
CLINVAR
×
Entrez Id:
2657
Gene Symbol:
GDF1
GDF1
0.600
GermlineCausalMutation
disease
ORPHANET
Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).
20413652
2010
×
Entrez Id:
2657
Gene Symbol:
GDF1
GDF1
0.600
Biomarker
disease
CTD_human
×
Entrez Id:
7044
Gene Symbol:
LEFTY2
LEFTY2
0.300
Biomarker
disease
CTD_human
Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.
10053005
1999
×
Entrez Id:
118856
Gene Symbol:
MMP21
MMP21
0.300
Biomarker
disease
CTD_human
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
26437028
2015
×
Entrez Id:
284086
Gene Symbol:
NEK8
NEK8
0.010
GeneticVariation
disease
BEFREE
Mutations in NEK8 have been previously reported in three fetuses (from a single family) with renal-hepatic-pancreatic dysplasia 2 (RHPD2), similar to Ivemark syndrome , and in three individuals with nephronophthisis (NPHP9).
26697755
2016
TCTEX1D2
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
6997
Gene Symbol:
TDGF1
TDGF1
0.300
Biomarker
disease
CTD_human
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.
11062482
2000
×
Entrez Id:
7546
Gene Symbol:
ZIC2
ZIC2
0.010
GeneticVariation
disease
BEFREE
A strong bias towards right isomerism indicates a failure to establish left identity in the lateral plate mesoderm (LPM), a phenotype that cannot be explained simply by the defective ciliogenesis previously noted in Zic2 mutants.
29992973
2018