fetal akinesia sequence Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Decreases fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). (Human Phenotype Ontology, HP_0001989)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001989
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Genes

8 genes associated with the fetal akinesia sequence phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CNTN1 contactin 1
GLE1 GLE1 RNA export mediator
KIF5C kinesin family member 5C
KLHL41 kelch-like family member 41
TRPV4 transient receptor potential cation channel, subfamily V, member 4