Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1770
Gene Symbol: DNAH9
DNAH9
0.300 GermlineCausalMutation disease ORPHANET Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. 30471718 2018
Entrez Id: 168507
Gene Symbol: PKD1L1
PKD1L1
0.300 GermlineCausalMutation disease ORPHANET Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. 27616478 2016
Entrez Id: 118856
Gene Symbol: MMP21
MMP21
0.300 GermlineCausalMutation disease ORPHANET Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. 26437029 2015
Entrez Id: 220136
Gene Symbol: CFAP53
CFAP53
0.300 GermlineCausalMutation disease ORPHANET A human laterality disorder associated with recessive CCDC11 mutation. 22577226 2012
Entrez Id: 55997
Gene Symbol: CFC1
CFC1
0.300 GeneticVariation disease ORPHANET Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. 11062482 2000
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
0.300 GeneticVariation disease ORPHANET X-linked situs abnormalities result from mutations in ZIC3. 9354794 1997
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
0.300 SusceptibilityMutation disease ORPHANET
Entrez Id: 93
Gene Symbol: ACVR2B
ACVR2B
0.300 SusceptibilityMutation disease ORPHANET
Entrez Id: 7044
Gene Symbol: LEFTY2
LEFTY2
0.300 SusceptibilityMutation disease ORPHANET