Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 8626
Gene Symbol: TP63
TP63
0.100 GeneticVariation disease CLINVAR
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
0.100 GeneticVariation disease CLINVAR
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
0.100 GeneticVariation disease CLINVAR
Entrez Id: 441151
Gene Symbol: TMEM151B
TMEM151B
0.100 GeneticVariation disease CLINVAR
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: 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: 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: 2066
Gene Symbol: ERBB4
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
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: 23405
Gene Symbol: DICER1
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: 3340
Gene Symbol: NDST1
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: 2946
Gene Symbol: GSTM2
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: 100653365
Gene Symbol: BED
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
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
0.010 GeneticVariation disease BEFREE Mutations in ephrin-B1, a membrane protein that is expressed by mesenchymal cells, have been found in newborn infants with CDH and associated pulmonary hypoplasia (PH), highlighting its important role during diaphragmatic and airway development. 30469162 2019
Entrez Id: 2952
Gene Symbol: GSTT1
GSTT1
0.010 GeneticVariation 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: 348
Gene Symbol: APOE
APOE
0.010 GeneticVariation disease BEFREE Small lung volumes were prospectively associated with an increased risk for poor cognitive function and dementia in non-carriers of the APOE epsilon4 gene. 19907180 2009
Entrez Id: 5972
Gene Symbol: REN
REN
0.110 Biomarker disease HPO
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.110 Biomarker disease HPO
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2
0.110 Biomarker disease HPO
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