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: C1858439
Disease: CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO
CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C0346011
Disease: Fibrofolliculoma
Fibrofolliculoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 10 1 0.100 None 0 1
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.100 None 0 2
CUI: C0496956
Disease: Neoplasm of uncertain or unknown behavior of breast
Neoplasm of uncertain or unknown behavior of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 41 0.300 None 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		phenotype Finding 67 6 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		disease Neoplasms Neoplastic Process 557 91 0.100 None 0 1
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma 		disease Neoplastic Process 87 9 0.100 None 0 1
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C0001618
Disease: Tumors of Adrenal Cortex
Tumors of Adrenal Cortex 		group Neoplasms; Endocrine System Diseases Neoplastic Process 74 5 0.100 None 0
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Neoplastic Process 99 32 0.100 None 0 1
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube 		phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 219 7 0.300 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: C4721411
Disease: Osteolysis
Osteolysis 		phenotype Musculoskeletal Diseases Pathologic Function 62 0.100 None 0
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 133 12 0.100 None 0 1
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 342 108 0.300 None 0
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: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood 		disease Neoplastic Process 264 3 0.010 None < 0.001 1 2018 2018
CUI: C0206692
Disease: Carcinoma, Lobular
Carcinoma, Lobular 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 66 1 0.010 None < 0.001 1 1 2005 2005
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		disease Neoplasms Neoplastic Process 633 22 0.010 None < 0.001 1 2009 2009
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		disease Disease or Syndrome 170 14 0.010 None < 0.001 1 2006 2006
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: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1287 272 0.010 None < 0.001 1 2 2012 2012