Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59330
Gene Symbol: GER
GER
0.010 Biomarker disease BEFREE The decrease in Cys-LT levels in cases with PPI treatment and in 8-iso levels in patients with fundoplication suggests that the oxidative damage in EBC of EA cases may be correlated with GER and its management. 31257017 2019
Entrez Id: 7008
Gene Symbol: TEF
TEF
0.070 Biomarker disease BEFREE A male infant with oesophageal atresia and distal tracheo-oesophageal fistula (TEF type C) underwent right thoracotomy and transpleural repair of TEF on day 4 of life. 30413439 2018
Entrez Id: 7008
Gene Symbol: TEF
TEF
0.070 GeneticVariation disease BEFREE In a cohort of 396 infants with esophageal atresia, 20 (5%) had RAA, with 18 having EA with a distal TEF and 2 with pure EA. 30224238 2019
Entrez Id: 1622
Gene Symbol: DBI
DBI
0.010 Biomarker disease BEFREE The mean DBI values of the EA, EAch and CES patients was 912 ± 550, 2153 ± 915 and 1392 Ω, respectively. 30145680 2019
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.010 Biomarker disease BEFREE Determine whether vocal cord paresis or paralysis (VCP/P) following surgical repair of congenital esophageal atresia/tracheoesophageal fistula (EA/TEF) is generally a primary anomaly, or is secondary to EA/TEF repair. 30055738 2018
Entrez Id: 2255
Gene Symbol: FGF10
FGF10
0.010 Biomarker disease BEFREE Impaired FGF10 Signaling and Epithelial Development in Experimental Lung Hypoplasia With Esophageal Atresia. 29732364 2018
Entrez Id: 7008
Gene Symbol: TEF
TEF
0.070 Biomarker disease BEFREE Esophageal atresia and tracheoesophageal fistula (EA/TEF) are relatively common malformations in newborns, but the etiology of EA/TEF remains unknown. 29621589 2018
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
0.030 GeneticVariation disease BEFREE Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance? 29257230 2018
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
0.010 GeneticVariation disease BEFREE Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance? 29257230 2018
Entrez Id: 1087
Gene Symbol: CEACAM7
CEACAM7
0.010 GeneticVariation disease BEFREE Congenital esophageal atresia with or without tracheoesophageal fistula (CEA ± TEF) is a relatively common malformation that occurs in 1 of 2500-4500 live births. 28953251 2017
Entrez Id: 1048
Gene Symbol: CEACAM5
CEACAM5
0.010 GeneticVariation disease BEFREE Congenital esophageal atresia with or without tracheoesophageal fistula (CEA ± TEF) is a relatively common malformation that occurs in 1 of 2500-4500 live births. 28953251 2017
Entrez Id: 1084
Gene Symbol: CEACAM3
CEACAM3
0.010 GeneticVariation disease BEFREE Congenital esophageal atresia with or without tracheoesophageal fistula (CEA ± TEF) is a relatively common malformation that occurs in 1 of 2500-4500 live births. 28953251 2017
Entrez Id: 5670
Gene Symbol: PSG2
PSG2
0.010 GeneticVariation disease BEFREE Congenital esophageal atresia with or without tracheoesophageal fistula (CEA ± TEF) is a relatively common malformation that occurs in 1 of 2500-4500 live births. 28953251 2017
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
0.010 AlteredExpression disease BEFREE The objective of the article is to evaluate KRAS and BRAF mutations as potential genetic markers for early detection of malignant transformation, we used an ultrasensitive technique to detect tissue expression of KRAS and BRAF mutations in endoscopic biopsies from 61 adult patients under follow-up after treatment for EA. 28873491 2018
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.010 GeneticVariation disease BEFREE The objective of the article is to evaluate KRAS and BRAF mutations as potential genetic markers for early detection of malignant transformation, we used an ultrasensitive technique to detect tissue expression of KRAS and BRAF mutations in endoscopic biopsies from 61 adult patients under follow-up after treatment for EA. 28873491 2018
Entrez Id: 1950
Gene Symbol: EGF
EGF
0.010 GeneticVariation disease BEFREE In this study with the experimental model of primary repair of esophageal atresia(EA), we investigated the effects of the epidermal growth factor(EGF) on wound healing in the anastomosis of EA. 28688571 2017
Entrez Id: 5125
Gene Symbol: PCSK5
PCSK5
0.010 GeneticVariation disease BEFREE Loss of proprotein convertase subtilisin/kexin type 5 (Pcsk5) results in multiple developmental anomalies including cardiac malformations, caudal regression, pre-sacral mass, renal agenesis, anteroposterior patterning defects, and tracheo-oesophageal and anorectal malformations, and is a model for VACTERL/caudal regression/Currarino syndromes (VACTERL association - Vertebral anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & Radial anomalies and Limb defects). 28446132 2017
Entrez Id: 10993
Gene Symbol: SDS
SDS
0.010 Biomarker disease BEFREE Eight-year-old children with EA had reduced exercise capacity which was only associated with the reduction in TLC<sub>he</sub> and higher SDS weight-for-height. 28244688 2017
Entrez Id: 11169
Gene Symbol: WDHD1
WDHD1
0.010 Biomarker disease BEFREE Most units treat an average of 2-5 OA+TOF (71%) and ≤1 pure OA (pOA) per year (86%). 28012691 2017
Entrez Id: 7008
Gene Symbol: TEF
TEF
0.070 Biomarker disease BEFREE This retrospective review of 66 patients with postoperative recurrent and acquired TEF following esophageal atresia repair is the largest such series to date and provides a new categorization for postoperative TEF that helps clarify the diagnostic and therapeutic challenges for management. 27616617 2017
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.010 Biomarker disease BEFREE Impaired VEGF Signaling in Lungs with Hypoplastic Esophageal Atresia and Effects on Branching Morphogenesis. 27372649 2016
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
0.040 GeneticVariation disease BEFREE Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations. 25387991 2015
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
0.030 GeneticVariation disease BEFREE Our finding is the first to link this GLI3 gene mutation with esophageal atresia in humans, which was previously suggested in an animal model. 24819706 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.010 GeneticVariation disease BEFREE In this study, we analyzed the sequence variants of coding regions for a set of esophageal atresia-related genes including MYCN, SOX2, CHD7, GLI3, FGFR2 and PTEN for mutations using PCR-based target enrichment and next-generation sequencing in 27 patients with esophageal atresia. 24819706 2014
Entrez Id: 7008
Gene Symbol: TEF
TEF
0.070 Biomarker disease BEFREE Esophageal atresia (EA) is a congenital defect of the esophagus involving the interruption of the esophagus with or without connection to the trachea (tracheoesophageal fistula [TEF]). 24460849 2015