Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9241
Gene Symbol: NOG
NOG
0.210 GeneticVariation disease BEFREE We investigated the incidence of point mutations in the coding region of the NOG gene in human EA/TEF. 22083168 2012
Entrez Id: 9241
Gene Symbol: NOG
NOG
0.210 Biomarker disease MGD Aberrant Bmp signaling and notochord delamination in the pathogenesis of esophageal atresia. 17260385 2007
Entrez Id: 6469
Gene Symbol: SHH
SHH
0.200 Biomarker disease RGD Abnormal Sonic hedgehog signaling in the lung of rats with esophageal atresia induced by adriamycin. 25003913 2014
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
0.200 Biomarker disease RGD Defective sonic hedgehog signaling in esophageal atresia with tracheoesophageal fistula. 12947339 2003
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
0.100 CausalMutation disease CLINVAR MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
0.100 CausalMutation disease CLINVAR
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
0.100 GeneticVariation disease CLINVAR
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
0.100 CausalMutation disease CLINVAR
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
0.100 CausalMutation disease CLINVAR
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
0.100 CausalMutation disease CLINVAR
Entrez Id: 7008
Gene Symbol: TEF
TEF
0.040 GeneticVariation disease BEFREE Esophageal atresia with or without tracheoesophageal fistula (EA with or without TEF) is one of the neonatal surgical emergencies requiring surgical intervention in the early neonatal period, influencing the developmental outcome in the operated children. 30597492 2019
Entrez Id: 7008
Gene Symbol: TEF
TEF
0.040 Biomarker disease BEFREE All infants with a diagnosis of EA/TEF made within 30days of life who had surgical repair of their defect defined as esophageal reconstruction with or without ligation of TEF within the first six months of life were included. 27993359 2017
Entrez Id: 7008
Gene Symbol: TEF
TEF
0.040 GeneticVariation disease BEFREE Tracheoesophageal fistula, with or without esophageal atresia (TEF/EA) appears to be a defect of blastogenesis, as is the oculoauriculovertebral (Goldenhar) spectrum (OAVS), with which it has occasionally been associated. 7586653 1995
Entrez Id: 7008
Gene Symbol: TEF
TEF
0.040 Biomarker disease BEFREE Esophageal atresia with or without tracheoesophageal fistula (EA +/- TEF) usually occurs sporadically either as an isolated malformation or in conjunction with other congenital anomalies. 6714984 1984
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 AlteredExpression disease BEFREE Bone morphogenetic protein (Bmp) 4 and Cathepsin H (Ctsh), downstream targets of <i>Fgf10</i>, were significantly downregulated in the EA-TEF model during the saccular stage, consistent with Fgf10 expression. 29732364 2018
Entrez Id: 1512
Gene Symbol: CTSH
CTSH
0.010 Biomarker disease BEFREE Bone morphogenetic protein (Bmp) 4 and Cathepsin H (Ctsh), downstream targets of <i>Fgf10</i>, were significantly downregulated in the EA-TEF model during the saccular stage, consistent with Fgf10 expression. 29732364 2018
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: 56955
Gene Symbol: MEPE
MEPE
0.010 Biomarker disease BEFREE Of 45 EA/TEF infants included, 20 (44%) had postoperative strictures requiring dilation. 28807203 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: 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: 7422
Gene Symbol: VEGFA
VEGFA
0.010 Biomarker disease BEFREE In this study, we investigated the Vascular endothelial growth factor (VEGF) pathway in the developing lung in an EA-TEF rat model. 27372649 2016
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
0.010 Biomarker disease BEFREE Triple X syndrome is rarely described in patients with EA/TEF and no duplications of the SHOX gene were reported so far in these patients. 24398799 2014