prenatal maternal abnormality Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002686
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Genes

31 genes associated with the prenatal maternal abnormality phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AFP alpha-fetoprotein
CORIN corin, serine peptidase
CPT1A carnitine palmitoyltransferase 1A (liver)
F5 coagulation factor V (proaccelerin, labile factor)
FGFR1 fibroblast growth factor receptor 1
FUZ fuzzy planar cell polarity protein
GJA1 gap junction protein, alpha 1, 43kDa
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
LBR lamin B receptor
LMNA lamin A/C
NKX2-5 NK2 homeobox 5
NR3C2 nuclear receptor subfamily 3, group C, member 2
OTX2 orthodenticle homeobox 2
PAH phenylalanine hydroxylase
PDX1 pancreatic and duodenal homeobox 1
POR P450 (cytochrome) oxidoreductase
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PROKR2 prokineticin receptor 2
PTF1A pancreas specific transcription factor, 1a
SHH sonic hedgehog
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
STOX1 storkhead box 1
TSHR thyroid stimulating hormone receptor
VANGL1 VANGL planar cell polarity protein 1