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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 6871
Gene Symbol: TADA2A
TADA2A
0.010 GeneticVariation disease BEFREE We propose to consider a role for selected genes such as AATF (cell proliferation and apoptosis) and TADA2L (Wnt pathway) at the 17q12 region as well as developmental and transcriptional pathways represented by these genes, in the development of OA/TOF and VATER association. 24239950 2014
Entrez Id: 2735
Gene Symbol: GLI1
GLI1
0.010 GeneticVariation disease BEFREE These facts led us to hypothesize that Sonic hedgehog-GLI gene rearrangements are associated with EA in humans. 23442119 2014
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
0.010 Biomarker disease BEFREE To our best knowledge this is the first study assessing copy number of GLI2 and GLI3 genes in patients with EA. 23442119 2014
Entrez Id: 26574
Gene Symbol: AATF
AATF
0.010 Biomarker disease BEFREE We propose to consider a role for selected genes such as AATF (cell proliferation and apoptosis) and TADA2L (Wnt pathway) at the 17q12 region as well as developmental and transcriptional pathways represented by these genes, in the development of OA/TOF and VATER association. 24239950 2014
Entrez Id: 133482
Gene Symbol: SLCO6A1
SLCO6A1
0.010 GeneticVariation disease BEFREE Recently, the GST family, especially the GSTM1 null genotype (but not the GSTP1 polymorphism I105V), has been associated with esophageal atresia. 23828841 2013
Entrez Id: 373156
Gene Symbol: GSTK1
GSTK1
0.010 GeneticVariation disease BEFREE Recently, the GST family, especially the GSTM1 null genotype (but not the GSTP1 polymorphism I105V), has been associated with esophageal atresia. 23828841 2013
Entrez Id: 26164
Gene Symbol: MTG2
MTG2
0.010 Biomarker disease BEFREE GTPBP5 bears further study as a cause of TEF/EA accompanied by other malformations. 21608104 2011
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
0.010 GeneticVariation disease BEFREE This is the second report of HNF1B mutation associated with EA. 21540130 2011