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: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.020 None 1.000 2 2012 2018
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.010 None 1.000 1 2019 2019
CUI: C0238506
Disease: Congenital posterior urethral valves
Congenital posterior urethral valves 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 26 1 0.010 None 1.000 1 1999 1999
CUI: C0243066
Disease: Atresia
Atresia 		disease Congenital Abnormality 44 1 0.010 None 1.000 1 2020 2020
CUI: C4049615
Disease: Megaureter
Megaureter 		disease Congenital Abnormality 8 0.010 None 1.000 1 1999 1999
CUI: C4282128
Disease: PATENT DUCTUS ARTERIOSUS 1
PATENT DUCTUS ARTERIOSUS 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 229 12 0.010 None 1.000 1 2019 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 34 0.100 None 0
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 1.000 None 0.982 623 680 1953 2020
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.100 None 0.914 35 1995 2019
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		disease Nutritional and Metabolic Diseases Disease or Syndrome 94 144 0.100 None 1.000 19 1997 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.200 None 1.000 17 1 1998 2020
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.100 None 1.000 15 2008 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.100 None 1.000 13 2002 2018
CUI: C0432408
Disease: Trisomy 12
Trisomy 12 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 76 0.100 None 1.000 12 2004 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 1.000 11 1997 2018
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 360 194 0.100 None 1.000 11 2002 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.100 None 1.000 10 2001 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.380 None 1.000 9 1994 2019
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		disease Cardiovascular Diseases Disease or Syndrome 445 293 0.090 None 0.889 9 1998 2014
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.080 None 1.000 8 2001 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.080 None 0.875 8 2 2007 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.180 None 0.875 8 3 2007 2019
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.080 None 1.000 8 1997 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.080 None 0.875 8 1 1999 2018