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: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 71 79 0.010 None 1.000 1 2010 2010
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30 0.010 None 1.000 1 2012 2012
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.010 None 1.000 1 2015 2015
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Disease or Syndrome 77 75 0.010 None 1.000 1 2019 2019
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 182 9 0.010 None 1.000 1 2018 2018
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.010 None 1.000 1 2009 2009
Pituitary-dependent Cushing's disease
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 115 8 0.010 None 1.000 1 2020 2020
CUI: C0220612
Disease: Childhood Non-Hodgkin Lymphoma
Childhood Non-Hodgkin Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 371 39 0.010 None 1.000 1 2015 2015
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 517 12 0.010 None 1.000 1 2007 2007
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 509 12 0.010 None 1.000 1 2007 2007
CUI: C0280785
Disease: Diffuse Astrocytoma
Diffuse Astrocytoma
disease Neoplasms Neoplastic Process 81 8 0.010 None 1.000 1 2010 2010
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: 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
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx
disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 456 65 0.010 None 1.000 1 2008 2008
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder
disease Eye Diseases Disease or Syndrome 304 56 0.010 None 1.000 1 1 2012 2012
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2019 2019
CUI: C0346429
Disease: Multiple malignancy
Multiple malignancy
phenotype Neoplasms Neoplastic Process 163 3 0.010 None 1.000 1 2019 2019
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection
disease Infections Disease or Syndrome 429 42 0.010 None 1.000 1 2019 2019
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 31 17 0.010 None 1.000 1 2009 2009
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 370 39 0.010 None 1.000 1 2015 2015
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: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 972 125 0.010 None 1.000 1 2000 2000
CUI: C0085183
Disease: Neoplasms, Second Primary
Neoplasms, Second Primary
phenotype Neoplasms Neoplastic Process 44 2 0.010 None 1.000 1 2007 2007
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 199 10 0.010 None 1.000 1 2004 2004
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
group Infections Disease or Syndrome 1471 42 0.010 None 1.000 1 2018 2018