increased nuchal translucency Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination). (Human Phenotype Ontology, HP_0010880)
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21 genes associated with the increased nuchal translucency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATN1 atrophin 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CEP57 centrosomal protein 57kDa
CLIP2 CAP-GLY domain containing linker protein 2
DHCR7 7-dehydrocholesterol reductase
ELN elastin
FGFR3 fibroblast growth factor receptor 3
GPC6 glypican 6
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
LIMK1 LIM domain kinase 1
NIPBL Nipped-B homolog (Drosophila)
RAD21 RAD21 homolog (S. pombe)
RFC2 replication factor C (activator 1) 2, 40kDa
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
TBL2 transducin (beta)-like 2