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: 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: 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: 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: C2698310
Disease: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 		disease 0.100 None 0 1
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		disease 0.130 None 1.000 0 1 2015 2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0578878
Disease: Inflammation of large intestine
Inflammation of large intestine 		phenotype 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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease 0.200 None 1.000 0 1 2000 2017
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: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease 0.160 None 0.833 0 1 2000 2018
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: 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: 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: 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: 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: C1858439
Disease: CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO
CANCER OF MULTIPLE TYPES, 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: C0346011
Disease: Fibrofolliculoma
Fibrofolliculoma 		disease 0.100 None 0 1
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease 0.110 None < 0.001 0 1 2018 2018
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		disease 0.100 None 0 1
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0025202
Disease: melanoma
melanoma 		disease 0.150 None 0.800 0 1 2004 2013
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		disease 0.100 None 0 1
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		disease 0.100 None 0 1
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0018932
Disease: Hematochezia
Hematochezia 		phenotype 0.100 None 0 1
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.700 limited 0.885 0 1 2003 2019