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: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE
disease 0.710 moderate 1.000 0 4 2012 2012
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
disease 0.600 strong 1.000 8 4 2003 2017
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.400 None 1.000 1 3 2013 2016
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.130 None 1.000 1 1 2016 2019
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.110 None 1.000 1 2 2009 2016
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma
disease 0.110 None 1.000 1 2 2016 2018
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 6 2 1996 2015
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm
disease 0.100 None 1.000 1 3 2016 2016
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
disease 0.100 None 1.000 1 2 2016 2016