Congenital Hypoplasia Of Lung Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0265783
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Genes

169 genes associated with the disease Congenital Hypoplasia Of Lung in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ACE angiotensin I converting enzyme
ACTA1 actin, alpha 1, skeletal muscle
ADGRG6 adhesion G protein-coupled receptor G6
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
ALG9 ALG9, alpha-1,2-mannosyltransferase
APOE apolipoprotein E
ASCC1 activating signal cointegrator 1 complex subunit 1
ATP5F1A ATP synthase F1 subunit alpha
BICC1 BicC family RNA binding protein 1
BMPER BMP binding endothelial regulator
BNC2 basonuclin 2
CC2D2A coiled-coil and C2 domain containing 2A
CCND1 cyclin D1
CD44 CD44 molecule (Indian blood group)
CDC45 cell division cycle 45
CDH10 cadherin 10, type 2 (T2-cadherin)
CEP120 centrosomal protein 120kDa
CEP55 centrosomal protein 55kDa
CFL1 cofilin 1 (non-muscle)
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
COQ7 coenzyme Q7 homolog, ubiquinone (yeast)
CRB2 crumbs family member 2
CST3 cystatin C
DHCR7 7-dehydrocholesterol reductase
DICER1 dicer 1, ribonuclease type III
DISP1 dispatched homolog 1 (Drosophila)
DOK7 docking protein 7
DONSON downstream neighbor of SON
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EFNB1 ephrin-B1
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EPO erythropoietin
ERBB4 erb-b2 receptor tyrosine kinase 4
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
FANCB Fanconi anemia, complementation group B
FGF10 fibroblast growth factor 10
FGF20 fibroblast growth factor 20
FLNA filamin A, alpha
FLNB filamin B, beta
FOXA2 forkhead box A2
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FSTL1 follistatin-like 1
FUZ fuzzy planar cell polarity protein
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GHSR growth hormone secretagogue receptor
GLDN gliomedin
GLE1 GLE1 RNA export mediator
GLI3 GLI family zinc finger 3
GLIPR1 GLI pathogenesis-related 1
GREB1L growth regulation by estrogen in breast cancer-like
GRIP1 glutamate receptor interacting protein 1
GSTM1 glutathione S-transferase mu 1
GSTM2 glutathione S-transferase mu 2 (muscle)
GSTT1 glutathione S-transferase theta 1
HACD1 3-hydroxyacyl-CoA dehydratase 1
HMMR hyaluronan-mediated motility receptor (RHAMM)
HSPG2 heparan sulfate proteoglycan 2
IFT80 intraflagellar transport 80
IFT81 intraflagellar transport 81
INTU inturned planar cell polarity protein
INVS inversin
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGA6 integrin, alpha 6
ITGA7 integrin, alpha 7
ITGA8 integrin, alpha 8
KAT6B K(lysine) acetyltransferase 6B
KIAA0195 KIAA0195
KIAA0586 KIAA0586
KLHL40 kelch-like family member 40
KLHL41 kelch-like family member 41
KRAS Kirsten rat sarcoma viral oncogene homolog
LBR lamin B receptor
LCN2 lipocalin 2
LEP leptin
LHCGR luteinizing hormone/choriogonadotropin receptor
LIFR leukemia inhibitory factor receptor alpha
LMNA lamin A/C
LMOD3 leiomodin 3 (fetal)
LTBP4 latent transforming growth factor beta binding protein 4
MAP3K20 mitogen-activated protein kinase kinase kinase 20
MAPK12 mitogen-activated protein kinase 12
MAPK6 mitogen-activated protein kinase 6
MCTP2 multiple C2 domains, transmembrane 2
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYOD1 myogenic differentiation 1
MYRF myelin regulatory factor
NDC1 NDC1 transmembrane nucleoporin
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NEB nebulin
NEK1 NIMA-related kinase 1
NEK8 NIMA-related kinase 8
NEK9 NIMA-related kinase 9
NFIA nuclear factor I/A
NFIB nuclear factor I/B
NIPBL Nipped-B homolog (Drosophila)
NKX2-1 NK2 homeobox 1
NOTCH2 notch 2
NPHP3 nephronophthisis 3 (adolescent)
NR2F2 nuclear receptor subfamily 2, group F, member 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NUP88 nucleoporin 88kDa
PEX1 peroxisomal biogenesis factor 1
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PRKCA protein kinase C, alpha
PSAT1 phosphoserine aminotransferase 1
PTH1R parathyroid hormone 1 receptor
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
RBM10 RNA binding motif protein 10
REN renin
RET ret proto-oncogene
ROR2 receptor tyrosine kinase-like orphan receptor 2
RYR1 ryanodine receptor 1 (skeletal)
SELENON selenoprotein N
SETBP1 SET binding protein 1
SFTPB surfactant protein B
SFTPC surfactant protein C
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STRA6 stimulated by retinoic acid 6
TAPT1 transmembrane anterior posterior transformation 1
TBX2 T-box 2
TBX4 T-box 4
TBX5 T-box 5
TCTN3 tectonic family member 3
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
TMEM151B transmembrane protein 151B
TMEM258 transmembrane protein 258
TNF tumor necrosis factor
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRIP4 thyroid hormone receptor interactor 4
TTF1 transcription termination factor, RNA polymerase I
VANGL1 VANGL planar cell polarity protein 1
VEGFA vascular endothelial growth factor A
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT3 wingless-type MMTV integration site family, member 3
WNT4 wingless-type MMTV integration site family, member 4
ZFPM2 zinc finger protein, FOG family member 2
ZMPSTE24 zinc metallopeptidase STE24