CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Source: ALL
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.
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 1 11 0.700 None 1.000 2 11 2001 2018
CUI: C0677781
Disease: Neurofibromatosis 1 and 2 (NF1 and NF2)
Neurofibromatosis 1 and 2 (NF1 and NF2) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 1 0.010 None 1.000 1 2018 2018
CUI: C1858433
Disease: BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO 		phenotype Finding 1 7 0.100 None 0 7
CUI: C1858439
Disease: CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO
CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO 		phenotype Finding 1 1 0.100 None 0 1
CUI: C2698310
Disease: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 		disease Neoplastic Process 1 1 0.100 None 0 1
CUI: C1318550
Disease: Refractory anemia with excess blasts I
Refractory anemia with excess blasts I 		disease Hemic and Lymphatic Diseases Neoplastic Process 3 0.010 None 1.000 1 2018 2018
CUI: C1858438
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO
COLORECTAL CANCER, SUSCEPTIBILITY TO 		phenotype Finding 3 8 0.100 None 0 1
CUI: C4025038
Disease: Abnormality of the tibial metaphysis
Abnormality of the tibial metaphysis 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 4 14 0.100 None 0 2
CUI: C4025040
Disease: Abnormality of the femoral metaphysis
Abnormality of the femoral metaphysis 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C1842408
Disease: increased risk of pancreatic cancer
increased risk of pancreatic cancer 		phenotype Neoplasms Finding 5 6 0.100 None 0 2
CUI: C3469524
Disease: PROSTATE CANCER, SUSCEPTIBILITY TO
PROSTATE CANCER, SUSCEPTIBILITY TO 		phenotype Finding 5 6 0.100 None 0 2
CUI: C1861906
Disease: Breast Cancer, Familial Male
Breast Cancer, Familial Male 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6 0.010 None 1.000 1 2004 2004
CUI: C4015779
Disease: PROSTATE CANCER, SOMATIC
PROSTATE CANCER, SOMATIC 		disease Neoplastic Process 6 18 0.100 None 0 2
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 8 0.010 None 1.000 1 2015 2015
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 10 8 0.010 None < 0.001 1 2001 2001
CUI: C0346011
Disease: Fibrofolliculoma
Fibrofolliculoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 10 1 0.100 None 0 1
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		phenotype Finding 11 24 0.100 None 0 4
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: 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
CUI: C4528557
Disease: Anatomic Stage III Breast Cancer AJCC v8
Anatomic Stage III Breast Cancer AJCC v8 		disease Neoplastic Process 12 1 0.020 None 1.000 2 2004 2011
CUI: C4528588
Disease: Prognostic Stage III Breast Cancer AJCC v8
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: C0578878
Disease: Inflammation of large intestine
Inflammation of large intestine 		phenotype Digestive System Diseases Disease or Syndrome 12 1 0.100 None 0 1
CUI: C0242788
Disease: Breast Neoplasms, Male
Breast Neoplasms, Male 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 14 0.310 None 1.000 2 2002 2008