Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1144
Gene Symbol: CHRND
CHRND
0.100 Biomarker disease HPO
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
0.100 Biomarker disease HPO
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.100 Biomarker disease HPO
Entrez Id: 10229
Gene Symbol: COQ7
COQ7
0.100 Biomarker disease HPO
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: 1471
Gene Symbol: CST3
CST3
0.010 AlteredExpression disease BEFREE We hypothesized that cord blood cystatin C (CysC) levels are elevated in neonates who have life-threatening pulmonary hypoplasia and oligohydramnios due to severe renal dysfunction. 28681080 2017
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
0.100 Biomarker disease HPO
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: 84976
Gene Symbol: DISP1
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: 285489
Gene Symbol: DOK7
DOK7
0.100 Biomarker disease HPO
Entrez Id: 29980
Gene Symbol: DONSON
DONSON
0.100 Biomarker disease HPO
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
0.100 Biomarker disease HPO
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: 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: 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: 2056
Gene Symbol: EPO
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: 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: 2108
Gene Symbol: ETFA
ETFA
0.100 Biomarker disease HPO
Entrez Id: 2109
Gene Symbol: ETFB
ETFB
0.100 Biomarker disease HPO
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
0.100 Biomarker disease HPO
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
0.100 Biomarker disease HPO