prenatal maternal abnormality Gene Set
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
|
