Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 93
Gene Symbol: ACVR2B
ACVR2B 		0.700 Biomarker disease GENOMICS_ENGLAND 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 		0.700 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 		0.700 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 		0.600 GeneticVariation disease CLINVAR MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. 26437028 2015
Entrez Id: 118856
Gene Symbol: MMP21
MMP21 		0.600 Biomarker disease CTD_human MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. 26437028 2015
Entrez Id: 118856
Gene Symbol: MMP21
MMP21 		0.600 Biomarker disease MGD
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.520 GeneticVariation disease BEFREE Moreover, morpholino-knockdown experiments in zebrafish demonstrated that zic3 mutant mRNA failed to rescue the abnormal phenotype, suggesting a role for the novel ZIC3 mutation in heterotaxy syndrome. 30120289 2018
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.520 Biomarker disease MGD Zic3 is required in the migrating primitive streak for node morphogenesis and left-right patterning. 23303524 2013
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.520 Biomarker disease BEFREE Zinc fingers in cerebellum 3 (ZIC3) was the first gene to be definitively associated with heterotaxy syndromes in humans (OMIM #306955), with 13 mutations previously described in both familial and sporadic cases. 22171628 2013
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.520 Biomarker disease MGD Zic3 is required in the extra-cardiac perinodal region of the lateral plate mesoderm for left-right patterning and heart development. 23184148 2013
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.520 Biomarker disease MGD A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice. 11959836 2002
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.520 Biomarker disease MGD The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus. 10942421 2000
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.520 Biomarker disease MGD A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects. 10861288 2000
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.520 Biomarker disease MGD The interfrontal bone and mutant genes in the mouse. 1018005 1976
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.520 Biomarker disease MGD """Bent-Tail,"" A Dominant, Sex-Linked Mutation in the Mouse." 16589192 1952
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.520 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 7044
Gene Symbol: LEFTY2
LEFTY2 		0.500 Biomarker disease GENOMICS_ENGLAND 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: 7044
Gene Symbol: LEFTY2
LEFTY2 		0.500 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: 2657
Gene Symbol: GDF1
GDF1 		0.400 GeneticVariation disease CLINVAR Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 28991257 2017
Entrez Id: 2657
Gene Symbol: GDF1
GDF1 		0.400 GeneticVariation disease CLINVAR Clinical application of whole-exome sequencing across clinical indications. 26633542 2016
Entrez Id: 2657
Gene Symbol: GDF1
GDF1 		0.400 CausalMutation disease CLINVAR Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). 20413652 2010
Entrez Id: 4838
Gene Symbol: NODAL
NODAL 		0.400 Biomarker disease GENOMICS_ENGLAND Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. 19064609 2009
Entrez Id: 4838
Gene Symbol: NODAL
NODAL 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 2657
Gene Symbol: GDF1
GDF1 		0.400 Biomarker disease CTD_human
Entrez Id: 78987
Gene Symbol: CRELD1
CRELD1 		0.310 GeneticVariation disease BEFREE Analysis of the CRELD1 gene from individuals with non-trisomy 21-associated AVSD identified heterozygous missense mutations in nearly 6% of this population, including mutations in isolated AVSD and AVSD associated with heterotaxy syndrome. 12632326 2003