ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
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: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 76 206 0.010 None 1.000 1 2006 2006
CUI: C0393602
Disease: Isolated cervical dystonia
Isolated cervical dystonia 		disease Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2013 2013
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		group Immune System Diseases Disease or Syndrome 93 23 0.010 None 1.000 1 2019 2019
CUI: C0409651
Disease: Seropositive rheumatoid arthritis
Seropositive rheumatoid arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 30 1 0.010 None 1.000 1 2012 2012
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 484 110 0.010 None 1.000 1 2013 2013
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 951 34 0.010 None 1.000 1 2017 2017
CUI: C0037116
Disease: Silicosis
Silicosis 		disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 121 7 0.010 None 1.000 1 2007 2007
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 196 7 0.010 None 1.000 1 2016 2016
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 480 105 0.010 None 1.000 1 2005 2005
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2014 2014
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma 		disease Neoplasms; Infections Neoplastic Process 488 15 0.010 None 1.000 1 2014 2014
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 72 2 0.010 None 1.000 1 1999 1999
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 565 20 0.010 None 1.000 1 2003 2003
CUI: C0574785
Disease: Lower Urinary Tract Symptoms
Lower Urinary Tract Symptoms 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 77 30 0.010 None 1.000 1 2006 2006
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 177 37 0.010 None 1.000 1 2001 2001
CUI: C0585362
Disease: Squamous cell carcinoma of mouth
Squamous cell carcinoma of mouth 		disease Digestive System Diseases; Neoplasms; Stomatognathic Diseases Neoplastic Process 123 1 0.010 None 1.000 1 2014 2014
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 246 45 0.010 None 1.000 1 2018 2018
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1224 129 0.010 None 1.000 1 2013 2013
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2019 2019
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 42 81 0.010 None 1.000 1 2012 2012
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 284 46 0.010 None 1.000 1 2020 2020
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.010 None 1.000 1 2018 2018
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 105 49 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: C0079746
Disease: Immunoblastic Large-Cell Lymphoma
Immunoblastic Large-Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 28 0.010 None 1.000 1 2005 2005