thickened nuchal skin fold Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold 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. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (pmid:16100637). (Human Phenotype Ontology, HP_0000474)
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35 genes associated with the thickened nuchal skin fold phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
BRAF B-Raf proto-oncogene, serine/threonine kinase
COL2A1 collagen, type II, alpha 1
EFNB1 ephrin-B1
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
GATA1 GATA binding protein 1 (globin transcription factor 1)
HRAS Harvey rat sarcoma viral oncogene homolog
INSR insulin receptor
KAT6B K(lysine) acetyltransferase 6B
KRAS Kirsten rat sarcoma viral oncogene homolog
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OFD1 oral-facial-digital syndrome 1
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RIT1 Ras-like without CAAX 1
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SETBP1 SET binding protein 1
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SOS1 son of sevenless homolog 1 (Drosophila)
TRIP11 thyroid hormone receptor interactor 11
UBA1 ubiquitin-like modifier activating enzyme 1