Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease 0.500 None 1.000 2 1 1988 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease 0.200 None 0.985 1 67 1990 2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease 0.200 None 0.952 1 8 2006 2019
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease 0.200 None 0.957 1 1 1994 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease 0.200 None 1.000 1 4 2002 2019
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease 0.200 None 1.000 1 1 1993 2018
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease 0.170 None 1.000 1 1 1992 2019
Entrez Id: 4609
Gene Symbol: MYC
MYC
MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease 0.150 None 0.833 1 3 1994 2017
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease 0.130 None 1.000 1 4 1996 2016
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease 0.130 None 1.000 1 2 1992 2016
Entrez Id: 55294
Gene Symbol: FBXW7
FBXW7
F-box and WD repeat domain containing 7 0.465 0.808 1.00
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease 0.120 None 1.000 1 4 2012 2018
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease 0.110 None 1.000 1 3 2009 2016
Entrez Id: 100270680
Gene Symbol: CASC11
CASC11
cancer susceptibility 11 0.641 0.577
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease 0.110 None 1.000 1 3 2016 2019
Entrez Id: 100507500
Gene Symbol: EGFR-AS1
EGFR-AS1
EGFR antisense RNA 1 0.722 0.192
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease 0.100 None 1.000 2 1 2006 2014
Entrez Id: 387
Gene Symbol: RHOA
RHOA
ras homolog family member A 0.502 0.808 0.60
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease 0.100 None 1.000 1 1 2016 2016