Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 220136
Gene Symbol: CFAP53
CFAP53 		0.410 GeneticVariation disease BEFREE Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer. 25504577 2015
Entrez Id: 220136
Gene Symbol: CFAP53
CFAP53 		0.410 GermlineCausalMutation disease ORPHANET A human laterality disorder associated with recessive CCDC11 mutation. 22577226 2012
Entrez Id: 220136
Gene Symbol: CFAP53
CFAP53 		0.410 Biomarker disease HPO
Entrez Id: 168507
Gene Symbol: PKD1L1
PKD1L1 		0.400 GermlineCausalMutation disease ORPHANET Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. 27616478 2016
Entrez Id: 168507
Gene Symbol: PKD1L1
PKD1L1 		0.400 CausalMutation disease CLINVAR Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. 27616478 2016
Entrez Id: 4838
Gene Symbol: NODAL
NODAL 		0.400 GermlineCausalMutation disease ORPHANET 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 Biomarker disease HPO
Entrez Id: 168507
Gene Symbol: PKD1L1
PKD1L1 		0.400 Biomarker disease HPO
Entrez Id: 1770
Gene Symbol: DNAH9
DNAH9 		0.310 GeneticVariation disease BEFREE Using next-generation sequencing, we detected mutations in the ciliary outer dynein arm (ODA) heavy chain gene DNAH9 in individuals from PCD clinics with situs inversus and in one case male infertility. 30471717 2018
Entrez Id: 1770
Gene Symbol: DNAH9
DNAH9 		0.310 GermlineCausalMutation disease ORPHANET Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. 30471718 2018
Entrez Id: 29922
Gene Symbol: NME7
NME7 		0.300 GermlineCausalMutation disease ORPHANET A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis. 27060491 2016
Entrez Id: 124401
Gene Symbol: ANKS3
ANKS3 		0.300 GermlineCausalMutation disease ORPHANET ANKS3 is mutated in a family with autosomal recessive laterality defect. 27417436 2016
Entrez Id: 118856
Gene Symbol: MMP21
MMP21 		0.300 GermlineCausalMutation disease ORPHANET MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. 26437028 2015
Entrez Id: 146845
Gene Symbol: CFAP52
CFAP52 		0.300 GermlineCausalMutation disease ORPHANET A human laterality disorder associated with a homozygous WDR16 deletion. 25469542 2015
Entrez Id: 118856
Gene Symbol: MMP21
MMP21 		0.300 GermlineCausalMutation disease ORPHANET A human laterality disorder caused by a homozygous deleterious mutation in MMP21. 26429889 2015
Entrez Id: 203286
Gene Symbol: ANKS6
ANKS6 		0.300 Biomarker disease CTD_human ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 23793029 2013
Entrez Id: 93
Gene Symbol: ACVR2B
ACVR2B 		0.300 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: 10370
Gene Symbol: CITED2
CITED2 		0.300 SusceptibilityMutation disease ORPHANET
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.130 GeneticVariation disease BEFREE Mutations in ZIC3 are associated with situs ambiguus and cardiac defects predominantly in males. 16926859 2006
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.130 GeneticVariation disease BEFREE Situs ambiguus in a female fetus with balanced (X;21) translocation--evidence for functional nullisomy of the ZIC3 gene? 15470371 2005
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.130 GeneticVariation disease BEFREE Previously we mapped a locus for situs abnormalities in humans, HTX1, to Xq26.2 by linkage analysis in a single family (LR1) and by detection of a deletion in an unrelated situs ambiguus male (Family LR2; refs 2,3). 9354794 1997
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.130 Biomarker disease HPO
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3 		0.120 CausalMutation disease CLINVAR Characterizing the morbid genome of ciliopathies. 27894351 2016
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3 		0.120 CausalMutation disease CLINVAR Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. 20007846 2010
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3 		0.120 Biomarker disease BEFREE Knockdown of nphp3 also led to situs inversus phenotypes due to defective cilia at Kupffer's vesicle. 20462968 2010