ATR, ATR serine/threonine kinase, 545

N. diseases: 321; N. variants: 38
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: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2012 2012
CUI: C0003130
Disease: Anoxia
Anoxia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.020 None 1.000 2 2003 2004
CUI: C0004106
Disease: Astigmatism
Astigmatism 		disease Eye Diseases Disease or Syndrome 148 45 0.010 None 1.000 1 2020 2020
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 0.100 None 1.000 12 1995 2018
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 33 99 0.010 None 1.000 1 2017 2017
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.030 None 1.000 3 2016 2019
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		disease Neoplastic Process 350 19 0.010 None 1.000 1 2013 2013
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		group Infections Disease or Syndrome 616 17 0.010 None 1.000 1 2018 2018
CUI: C0004681
Disease: Bagassosis
Bagassosis 		disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 14 0.300 None 1.000 1 2015 2015
CUI: C0153943
Disease: Benign neoplasm of stomach
Benign neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 17 0.300 None 0
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 167 11 0.010 None 1.000 1 2019 2019
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.010 None 1.000 1 2016 2016
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 106 15 0.110 None 1.000 1 2007 2007
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 155 132 0.010 None 1.000 1 1997 1997
CUI: C0006111
Disease: Brain Diseases
Brain Diseases 		group Nervous System Diseases Disease or Syndrome 345 10 0.010 None 1.000 1 2013 2013
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 1018 204 0.010 None 1.000 1 2017 2017
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.010 None 1.000 1 2018 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 1.000 10 3 1999 2019
CUI: C0007120
Disease: Bronchioloalveolar Adenocarcinoma
Bronchioloalveolar Adenocarcinoma 		disease Neoplasms Neoplastic Process 136 5 0.010 None 1.000 1 2013 2013
CUI: C0006277
Disease: Bronchitis
Bronchitis 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 58 4 0.010 None 1.000 1 2011 2011
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0006625
Disease: Cachexia
Cachexia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 273 11 0.100 None 0
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2008 2008
CUI: C0751571
Disease: Cancer of Urinary Tract
Cancer of Urinary Tract 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 65 11 0.300 None 1.000 1 2013 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.030 None 1.000 3 2009 2018