pulmonary hypoplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002089
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Genes

51 genes associated with the pulmonary hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ACE angiotensin I converting enzyme
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
BMPER BMP binding endothelial regulator
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CSPP1 centrosome and spindle pole associated protein 1
DHCR7 7-dehydrocholesterol reductase
DOK7 docking protein 7
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FAM20C family with sequence similarity 20, member C
FGF20 fibroblast growth factor 20
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GLE1 GLE1 RNA export mediator
GRIP1 glutamate receptor interacting protein 1
HSPG2 heparan sulfate proteoglycan 2
INVS inversin
ITGA8 integrin, alpha 8
KAT6B K(lysine) acetyltransferase 6B
LBR lamin B receptor
LIFR leukemia inhibitory factor receptor alpha
LMNA lamin A/C
LTBP4 latent transforming growth factor beta binding protein 4
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NEK1 NIMA-related kinase 1
NEK8 NIMA-related kinase 8
NPHP3 nephronophthisis 3 (adolescent)
NSDHL NAD(P) dependent steroid dehydrogenase-like
PAX2 paired box 2
PEX1 peroxisomal biogenesis factor 1
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
REN renin
RET ret proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
STRA6 stimulated by retinoic acid 6
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT3 wingless-type MMTV integration site family, member 3
ZMPSTE24 zinc metallopeptidase STE24