Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6648
Gene Symbol: SOD2
SOD2
0.300 Therapeutic disease CTD_human Modulation of radiation-induced cytokine elevation associated with esophagitis and esophageal stricture by manganese superoxide dismutase-plasmid/liposome (SOD2-PL) gene therapy. 11121210 2001
Entrez Id: 7012
Gene Symbol: TERC
TERC
0.100 Biomarker disease HPO
Entrez Id: 55135
Gene Symbol: WRAP53
WRAP53
0.100 Biomarker disease HPO
Entrez Id: 55505
Gene Symbol: NOP10
NOP10
0.100 Biomarker disease HPO
Entrez Id: 65057
Gene Symbol: ACD
ACD
0.100 Biomarker disease HPO
Entrez Id: 5073
Gene Symbol: PARN
PARN
0.100 Biomarker disease HPO
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
0.100 CausalMutation disease CLINVAR
Entrez Id: 80169
Gene Symbol: CTC1
CTC1
0.100 Biomarker disease HPO
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1
0.100 Biomarker disease HPO
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.100 Biomarker disease HPO
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
0.100 Biomarker disease HPO
Entrez Id: 79650
Gene Symbol: USB1
USB1
0.100 Biomarker disease HPO
Entrez Id: 1736
Gene Symbol: DKC1
DKC1
0.100 Biomarker disease HPO
Entrez Id: 55651
Gene Symbol: NHP2
NHP2
0.100 Biomarker disease HPO
Entrez Id: 1048
Gene Symbol: CEACAM5
CEACAM5
0.010 Biomarker disease BEFREE In addition, esophageal stenosis (HR=4.089, 95% CI 1.451-11.527, <i>p</i>=0.008), T stage (HR=2.663, 95% CI 1.019-6.960, <i>p</i>=0.046), and CEA (HR=0.309, 95% CI 0.124-0.768, <i>p</i>=0.011) were revealed as risk parameters in further multivariate analysis. 29731639 2018
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.010 Biomarker disease BEFREE Herein, we describe the first case of a patient who developed autoimmune mucositis and esophagitis complicated by a severe refractory esophageal stenosis induced during treatment by nivolumab, which completely resolved after personalized treatment with tocilizumab, suggesting a role of IL-6 blockade in the management of severe steroid refractory esophageal stenosis and more broadly in refractory immune-related adverse events. 30587227 2018
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.010 GeneticVariation disease BEFREE A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis. 23598963 2013