Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6909
Gene Symbol: TBX2
0.010 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: 2066
Gene Symbol: ERBB4
0.010 GeneticVariation disease BEFREE We report a case of recurrent oligohydramnios in a mother with an ErbB4 mutation and speculate that the effects on the placenta through decreased vascularization contributed to oligohdyramnios and subsequent pulmonary hypoplasia in the newborn. 23344421 2013
Entrez Id: 286204
Gene Symbol: CRB2
0.010 GeneticVariation disease BEFREE This report expands the phenotype of CRB2 mutations to include lung hypoplasia and uretero-pelvic renal anomalies, and confirms cardiac malformation as a feature. 26925547 2016
Entrez Id: 7270
Gene Symbol: TTF1
0.010 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: 3161
Gene Symbol: HMMR
0.010 AlteredExpression disease BEFREE Lung hypoplasia appeared in two distinctive groups, with significant differences in lung development and RHAMM expression. 30312861 2018
Entrez Id: 2056
Gene Symbol: EPO
0.010 Biomarker disease BEFREE Our results reveal the suppressed EPO synthesis in the CDH fetus, which may contribute to the pathogenesis of lung hypoplasia and modification of pulmonary vasculature in the CDH rat model.Pediatr Pulmonol.2017;52:606-615. 27880037 2017
Entrez Id: 23405
Gene Symbol: DICER1
0.010 GeneticVariation disease BEFREE In addition to having congenital dysmorphic features, the child developed multiple DICER1 syndrome-related tumors before age 5 y: a pediatric cystic nephroma (pCN), a ciliary body medulloepithelioma (CBME), and a small lung cyst (consistent with occult pleuropulmonary blastoma Type I/Ir cysts seen in DICER1 mutation carriers). 29315962 2018
Entrez Id: 6910
Gene Symbol: TBX5
0.010 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: 2944
Gene Symbol: GSTM1
0.010 Biomarker disease BEFREE Our results suggest that oxidative damage may be play a important role in patients with N-SCLC, and that GSTM1 and GSTT1 null genotypes may predispose the cells of patients with N-SCLC to increased oxidative damage. 25472599 2014
Entrez Id: 1072
Gene Symbol: CFL1
0.010 AlteredExpression disease BEFREE Human non-small lung cancer H1299 cells harboring a tet-on gene expression system were used to induce exogenous expression of wild-type CFL-1. 23362981 2013
Entrez Id: 84976
Gene Symbol: DISP1
0.010 AlteredExpression disease BEFREE Decreased Disp-1 expression during diaphragmatic development and lung branching morphogenesis may interrupt mesenchymal cell proliferation, thus leading to diaphragmatic defects and PH in the nitrofen-induced CDH model. 30382378 2019
Entrez Id: 7039
Gene Symbol: TGFA
0.010 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: 960
Gene Symbol: CD44
0.010 Biomarker disease BEFREE In CDH, consistent with previous studies, our review shows magnetic resonance imaging as a better survival predictor followed by the 3D and 2D methods, while 2D-LHR was the more precise prognosticator correlating prenatal PH, survival at birth, and the need for neonatal respiratory support. 31269833 2019
Entrez Id: 7026
Gene Symbol: NR2F2
0.010 Biomarker disease BEFREE Chicken ovalbumin upstream promoter-transcription factor II (COUP-TFII) is a transcription factor in the steroid/thyroid hormone receptor superfamily, and targeted ablation of COUP-TFII causes CDH and associated lung hypoplasia in mice. 19853750 2009
Entrez Id: 6439
Gene Symbol: SFTPB
0.010 AlteredExpression disease BEFREE Interestingly, prenatal dexamethasone (Dex) treatment increased both TTF-1 and SP-B mRNAs over control levels when administered to rats with lung hypoplasia, but it had no effect on TTF-1 or a moderate effect on SP-B mRNA when administered to control rats. 10830305 2000
Entrez Id: 7040
Gene Symbol: TGFB1
0.010 Biomarker disease BEFREE In conclusion, we have uncovered novel roles of the mesenchyme-specific Tgf-β1 ligand in embryonic mouse lung development and generated a mouse model that may prove helpful to identify some of the key pathogenic mechanisms underlying lung hypoplasia in humans. 31028279 2019
Entrez Id: 4774
Gene Symbol: NFIA
0.010 Biomarker disease BEFREE It was shown that loss of NFIA results in hydrocephalus and agenesis of the corpus callosum and that NFIB deficiency leads to neurological defects and to severe lung hypoplasia, whereas Nfic knockout mice exhibit specific tooth defects. 17353270 2007
Entrez Id: 407018
Gene Symbol: MIR27A
0.010 AlteredExpression disease BEFREE Overexpression of microRNA-27a-3p inhibits non-small lung cancer cell proliferation but promotes cell apoptosis. 31319766 2019
Entrez Id: 3340
Gene Symbol: NDST1
0.010 GeneticVariation disease BEFREE Targeted disruption of NDST-1 gene leads to pulmonary hypoplasia and neonatal respiratory distress in mice. 10664446 2000
Entrez Id: 5294
Gene Symbol: PIK3CG
0.010 Biomarker disease BEFREE Potential miRNA pathways relevant to nitrofen-induced lung hypoplasia include PI3K, TGF-β, and cell cycle kinases. 26720608 2016
Entrez Id: 6440
Gene Symbol: SFTPC
0.010 AlteredExpression disease BEFREE Confocal-laser-scanning-microscopy revealed strikingly diminished Fstl1 immunofluorescence and SP-C expression in distal alveolar epithelium of nitrofen-exposed fetuses with CDH-associated PH on D18 and D21 compared to controls. 28188034 2017
Entrez Id: 595
Gene Symbol: CCND1
0.010 Biomarker disease BEFREE ASO to CD1 inhibited proliferation of non-small lung cancer cells and mesothelioma cells. 22110187 2011
Entrez Id: 2946
Gene Symbol: GSTM2
0.010 GeneticVariation disease BEFREE Our objective is to investigate the genetic polymorphisms of the glutathione S-transferase M1 and T1 genes (GSTM1 and GSTT1) and evaluate oxidative damage in patients with non-small lung cancer (N-SCLC). 25472599 2014
Entrez Id: 5597
Gene Symbol: MAPK6
0.010 Biomarker disease BEFREE Loss of ERK3 protein was validated after deletion of Erk3 in the female germ line using zona pellucida 3 (Zp3)-<i>cre</i> and a clear reduction of the protein kinase MK5 is detected, providing the first evidence for the existence of the ERK3/MK5 signaling complex <i>in vivo</i> In contrast to the previously reported Erk3 knockout phenotype, these mice are viable and fertile and do not display pulmonary hypoplasia, acute respiratory failure, abnormal T-cell development, reduction of thymocyte numbers, or altered T-cell selection. 30642948 2019
Entrez Id: 100653365
Gene Symbol: BED
0.010 GeneticVariation disease BEFREE Patients with small lung metastases (volumes < 11 cc) had better LC and OS when using SBRT doses of BED ≥100Gy<sub>10</sub>. 28143558 2017