Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 CausalMutation disease CLINVAR
Entrez Id: 2657
Gene Symbol: GDF1
GDF1
0.600 Biomarker disease CTD_human
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: 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: 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: 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: 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: 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 Conserved requirement for EGF-CFC genes in vertebrate left-right axis formation. 10521397 1999
Entrez Id: 255758
Gene Symbol: TCTEX1D2
TCTEX1D2
0.100 CausalMutation disease CLINVAR
Entrez Id: 10715
Gene Symbol: CERS1
CERS1
0.100 CausalMutation disease CLINVAR
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
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: 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
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