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: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 106 133 1999 2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.800 None 0.963 85 139 2001 2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		disease 0.460 None 1.000 25 6 2003 2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		disease 0.100 None 1.000 22 1 1999 2014
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 14 1 2001 2015
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.500 None 0.964 11 5 2002 2017
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 0.700 None 0.963 9 4 1999 2017
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group 0.110 None 1.000 1 1 2004 2011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C1858433
Disease: BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 7
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C1842408
Disease: increased risk of pancreatic cancer
increased risk of pancreatic cancer 		phenotype 0.100 None 0 2
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		disease 0.100 None 0 1
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease 0.200 None 0.769 0 1 2003 2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		disease 0.700 None 1.000 0 11 2001 2018
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		disease 0.100 None 0 2
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		disease 0.100 None 0 2
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C1858438
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO
COLORECTAL CANCER, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 1
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		disease 0.100 None 0 1
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease 0.200 None 0.750 0 1 2003 2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C4015779
Disease: PROSTATE CANCER, SOMATIC
PROSTATE CANCER, SOMATIC 		disease 0.100 None 0 2
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C3714644
Disease: Thymus Neoplasms
Thymus Neoplasms 		group 0.100 None 0 1
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C3469524
Disease: PROSTATE CANCER, SUSCEPTIBILITY TO
PROSTATE CANCER, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 2
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 4
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma 		disease 0.100 None 0 1
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C2698310
Disease: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 		disease 0.100 None 0 1