Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.110 AlteredExpression disease BEFREE Decreased Gata-6 expression during diaphragmatic development and lung branching morphogenesis may disrupt mesenchymal cell proliferation, causing malformed PPFs and reduced airway branching, thus leading to diaphragmatic defects and pulmonary hypoplasia in the nitrofen-induced CDH model. 29196881 2018
Entrez Id: 5972
Gene Symbol: REN
REN
0.110 GeneticVariation disease BEFREE Homozygous or compound heterozygous mutations in renin (REN) cause renal tubular dysgenesis, which is characterized by death in utero due to kidney failure and pulmonary hypoplasia. 21903317 2011
Entrez Id: 8516
Gene Symbol: ITGA8
ITGA8
0.110 Biomarker disease BEFREE Decreased expression of Itga3, Itga6, and Itga8 in the pulmonary mesenchyme may lead to disruptions in airway branching morphogenesis, thus contributing to PH in the nitrofen-induced CDH model. 28701000 2018
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2
0.110 AlteredExpression disease BEFREE Prenatal retinoic acid up-regulates pulmonary gene expression of COUP-TFII, FOG2, and GATA4 in pulmonary hypoplasia. 19853750 2009
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
0.110 Biomarker disease BEFREE Thus, a deficiency in contractile proteins MLC1a and MLC2 might have a role among the early molecular determinants of lung hypoplasia in the rat model of nitrofen-induced CDH. 17541012 2007
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
0.040 GeneticVariation disease BEFREE Accumulating evidence suggests that gefitinib may provide a survival benefit to EGFR mutation-positive non-small lung cancer patients. 17233841 2007
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
0.040 GeneticVariation disease BEFREE Gefitinib is well-known as a tyrosine kinase inhibitor targeting non-small-lung-cancer (NSCLC) containing EGFR mutations. 30605061 2019
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
0.040 GeneticVariation disease BEFREE We investigated EGFR and KRAS alterations among atypical adenomatous hyperplasia and small lung adenocarcinomas with bronchioloalveolar features to understand their role during multistage pathogenesis. 18379350 2008
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
0.040 Biomarker disease BEFREE The therapeutic landscape of Non Small Lung Cancer (NSCLC) has been profoundly changed over the last decade with the clinical introduction of Epidermal Growth Factor Receptor (EGFR) tyrosine kinase inhibitors (TKIs) and the discovery of EGFR activating mutations as the major predictive factor to these agents. 28807234 2017
Entrez Id: 9496
Gene Symbol: TBX4
TBX4
0.030 Biomarker disease BEFREE Furthermore, lungs of Tbx2-, Tbx4- and Tbx5-deficient mice are hypoplastic and exhibit decreased lung branching, similar to PH in human CDH. 27833996 2017
Entrez Id: 9496
Gene Symbol: TBX4
TBX4
0.030 GeneticVariation disease BEFREE Through exome sequencing, we find that PAPPA syndrome is caused by homozygous TBX4 inactivating mutations during embryogenesis in humans. 31761294 2019
Entrez Id: 9496
Gene Symbol: TBX4
TBX4
0.030 GeneticVariation disease BEFREE In addition to TBX4, the overlapping ∼2 Mb recurrent and nonrecurrent deletions at 17q23.1q23.2 identified in seven individuals with lung hypoplasia also remove a lung-specific enhancer region. 30639323 2019
Entrez Id: 2908
Gene Symbol: NR3C1
NR3C1
0.020 AlteredExpression disease BEFREE Glucocorticoid receptor gene expression in the hypoplastic lung of newborns with congenital diaphragmatic hernia. 11987085 2002
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
0.020 GeneticVariation disease BEFREE We investigated EGFR and KRAS alterations among atypical adenomatous hyperplasia and small lung adenocarcinomas with bronchioloalveolar features to understand their role during multistage pathogenesis. 18379350 2008
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
0.020 GeneticVariation disease BEFREE For treatment decisions and prognostic applications, we evaluated epidermal growth factor receptor (EGFR), p53, and KRAS somatic mutations in synchronous multiple small lung adenocarcinomas. 24643899 2014
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.020 Biomarker disease BEFREE Provision of VEGF has been demonstrated to be beneficial in hyperoxia-induced bronchopulmonary dysplasia, and hence could induce lung growth and improve the outcome in hypoplastic lung diseases. 29638228 2018
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
0.020 AlteredExpression disease BEFREE The decrease in TTF-1 mRNA levels in lung hypoplasia is paralleled by a down-regulation of TTF-1 protein levels, as well as by a decrease in the TTF-1/DNA complex when the TTF-1-binding site of the SP-B promoter was used as a probe. 10830305 2000
Entrez Id: 406984
Gene Symbol: MIR200B
MIR200B
0.020 AlteredExpression disease BEFREE We show that late lung hypoplasia in CDH is associated with (compensatory) upregulation of miR-200b in less hypoplastic lungs. 29135495 2019
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
0.020 AlteredExpression disease BEFREE Thyroid transcription factor 1 (TTF-1) is involved in lung ontogeny and regulation of the expression of surfactant proteins, and is likely abnormally expressed in nitrofen-induced lung hypoplasia. 10370019 1999
Entrez Id: 406984
Gene Symbol: MIR200B
MIR200B
0.020 AlteredExpression disease BEFREE We recently reported abnormal expression of miR-200b in the context of human pulmonary hypoplasia in congenital diaphragmatic hernia (CDH). 28743913 2017
Entrez Id: 1950
Gene Symbol: EGF
EGF
0.020 Biomarker disease BEFREE Hypoxia Induces Multidrug Resistance via Enhancement of Epidermal Growth Factor-Like Domain 7 Expression in Non-Small Lung Cancer Cells. 28351036 2017
Entrez Id: 1950
Gene Symbol: EGF
EGF
0.020 AlteredExpression disease BEFREE The purpose of this study was to determine protein and gene expression of EGF and TGF-alpha in CDH lung in order to elucidate the potential role of these growth factors in the pathogenesis of pulmonary hypoplasia in CDH. 14714133 2004
Entrez Id: 2908
Gene Symbol: NR3C1
NR3C1
0.020 AlteredExpression disease BEFREE To determine their therapeutic potential in hypoplastic lungs of CDH patients, the temporal and spatial expression of glucocorticoid receptor, thyroid hormone receptors, retinoic acid receptors, and retinoid X receptors were evaluated in lungs of CDH patients, hypoplastic lungs from other causes, and normal lungs. 17065567 2006
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.020 Biomarker disease BEFREE Vascular endothelial growth factor (VEGF) has previously been demonstrated to accelerate compensatory lung growth (CLG) in mice and may be a useful therapy for pulmonary hypoplasia. 29879188 2018
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.010 Biomarker disease BEFREE Prenatal retinoic acid up-regulates pulmonary gene expression of COUP-TFII, FOG2, and GATA4 in pulmonary hypoplasia. 19853750 2009