amniotic constriction ring Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands. (Human Phenotype Ontology, HP_0009775)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009775
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Genes

9 genes associated with the amniotic constriction ring 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)
FERMT1 fermitin family member 1
GJB2 gap junction protein, beta 2, 26kDa
GLE1 GLE1 RNA export mediator
NSDHL NAD(P) dependent steroid dehydrogenase-like
POMP proteasome maturation protein
RAPSN receptor-associated protein of the synapse