CHEK2, checkpoint kinase 2, 11200

N. diseases: 220; N. variants: 56
Source: BEFREE ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 0.909 22 4 2003 2019
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
disease Neoplastic Process 24 4 0.060 None 1.000 6 2004 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.050 None 0.800 5 2012 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.050 None 1.000 5 1 2006 2019
CUI: C0278487
Disease: Stage III Breast Cancer AJCC v6
Stage III Breast Cancer AJCC v6
disease Neoplastic Process 12 1 0.020 None 1.000 2 2004 2011
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.020 None 1.000 2 2004 2020
CUI: C0940937
Disease: precancerous lesions
precancerous lesions
phenotype Neoplastic Process 270 19 0.020 None 1.000 2 2008 2012
Oestrogen receptor positive breast cancer
disease Neoplastic Process 504 46 0.020 None 1.000 2 2009 2014
CUI: C3146271
Disease: Stage III Breast Cancer AJCC v7
Stage III Breast Cancer AJCC v7
disease Neoplastic Process 12 1 0.020 None 1.000 2 2004 2011
Anatomic Stage III Breast Cancer AJCC v8
disease Neoplastic Process 12 1 0.020 None 1.000 2 2004 2011
Prognostic Stage III Breast Cancer AJCC v8
disease Neoplastic Process 12 1 0.020 None 1.000 2 2004 2011
CUI: C4721421
Disease: Breast cancer stage III
Breast cancer stage III
disease Neoplastic Process 12 1 0.020 None 1.000 2 2004 2011
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.010 None 1.000 1 2015 2015
Differentiated Thyroid Gland Carcinoma
disease Neoplastic Process 242 72 0.010 None < 0.001 1 1 2014 2014
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
disease Disease or Syndrome 170 14 0.010 None < 0.001 1 2006 2006
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2013 2013
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.010 None < 0.001 1 2018 2018
CUI: C3642345
Disease: Luminal A Breast Carcinoma
Luminal A Breast Carcinoma
disease Neoplastic Process 153 11 0.010 None 1.000 1 1 2012 2012
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
disease Neoplastic Process 118 1 0.010 None 1.000 1 2018 2018
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1391 120 0.020 None 1.000 2 2003 2009
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1575 156 0.020 None 1.000 2 2003 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1973 871 0.010 None 1.000 1 2009 2009
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 756 47 0.020 None 1.000 2 2017 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1091 73 0.010 None 1.000 1 2018 2018
CUI: C0598428
Disease: genetic hypertension
genetic hypertension
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 34 2 0.010 None 1.000 1 2009 2009