aplasia/hypoplasia of the lungs Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006703
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Genes

81 genes associated with the aplasia/hypoplasia of the lungs 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
CHRM3 cholinergic receptor, muscarinic 3
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL2A1 collagen, type II, alpha 1
CSPP1 centrosome and spindle pole associated protein 1
DHCR7 7-dehydrocholesterol reductase
DOK7 docking protein 7
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
FANCB Fanconi anemia, complementation group B
FGF20 fibroblast growth factor 20
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FUZ fuzzy planar cell polarity protein
GLE1 GLE1 RNA export mediator
GRIP1 glutamate receptor interacting protein 1
HOXD13 homeobox D13
HSPG2 heparan sulfate proteoglycan 2
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT80 intraflagellar transport 80
INVS inversin
ITGA8 integrin, alpha 8
KAT6B K(lysine) acetyltransferase 6B
LBR lamin B receptor
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
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
NELFA negative elongation factor complex member A
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)
PORCN porcupine homolog (Drosophila)
PSAT1 phosphoserine aminotransferase 1
PTH1R parathyroid hormone 1 receptor
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
TCTN3 tectonic family member 3
TRIP11 thyroid hormone receptor interactor 11
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTC21B tetratricopeptide repeat domain 21B
VANGL1 VANGL planar cell polarity protein 1
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT3 wingless-type MMTV integration site family, member 3
WNT4 wingless-type MMTV integration site family, member 4
WT1 Wilms tumor 1
ZMPSTE24 zinc metallopeptidase STE24