Gene Term Annotation Report - Rat Genome Database

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GENE - TERM ANNOTATION REPORT

RGD ID:	1318815
Species:	Homo sapiens
RGD Object:	Gene
Symbol:	PIEZO1
Name:	piezo type mechanosensitive ion channel component 1 (Er blood group)

Acc ID:	HP:0000474
Term:	Thickened nuchal skin fold
Definition:	A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.
Definition Source(s):	https://orcid.org/0000-0002-0736-9199, PMID:16100637, PMID:30431620

Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.

Object Symbol	Qualifier	Evidence	With	Reference	Source	Notes	Original Reference(s)
PIEZO1		IAGP	(Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Thickened nuchal skin fold	PMID:25741868 PMID:30244526 PMID:31680349
PIEZO1		IAGP	(Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Thickened nuchal skin fold	PMID:25741868 PMID:30244526 PMID:31680349

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