Source: CGI

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: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease 0.300 None 0 0
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0346191
Disease: Carcinoma in situ of endometrium
Carcinoma in situ of endometrium
disease 0.300 None 0 0
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease 0.700 strong 1.000 0 0 1999 2020
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
Neoplasm of uncertain or unknown behavior of ovary
disease 0.300 None 0 0
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.440 None 1.000 0 0 2006 2019
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease 0.630 strong 1.000 0 0 2014 2019
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease 0.310 None 1.000 0 0 2010 2010
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
disease 0.400 None 1.000 0 0 2013 2020
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
disease 0.300 None 0 0
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease 0.310 None 1.000 0 0 2013 2013
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.300 None 0 0
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group 0.300 None 0 0
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0153943
Disease: Benign neoplasm of stomach
Benign neoplasm of stomach
disease 0.300 None 0 0
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0154060
Disease: Carcinoma in situ of stomach
Carcinoma in situ of stomach
disease 0.300 None 0 0
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0346191
Disease: Carcinoma in situ of endometrium
Carcinoma in situ of endometrium
disease 0.300 None 0 0
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease 0.500 None 1.000 0 0 2013 2020
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
Neoplasm of uncertain or unknown behavior of stomach
disease 0.300 None 0 0
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease 0.310 None 1.000 0 0 2013 2013
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease 0.300 None 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 1.000 strong 0.951 0 0 1994 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
disease 0.300 None 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group 0.600 None 1.000 0 0 2014 2014
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease 0.500 None 0.947 0 0 1998 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
disease 0.650 None 0.857 0 0 2003 2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease 0.400 None 0.986 0 0 1995 2019