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: 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: C0730364
Disease: Idiopathic polypoidal choroidal vasculopathy
Idiopathic polypoidal choroidal vasculopathy 		disease Disease or Syndrome 1 0.010 None 1.000 1 2003 2003
CUI: C1843542
Disease: T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC
T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC 		disease Disease or Syndrome 1 0.300 None 1.000 1 2009 2009
CUI: C3825373
Disease: Hodgkin's disease in children
Hodgkin's disease in children 		disease Disease or Syndrome 1 0.010 None 1.000 1 2004 2004
CUI: C1859624
Disease: Defective B cell differentiation
Defective B cell differentiation 		phenotype Finding 1 0.100 None 0
CUI: C1876175
Disease: Ataxia-Telangiectasia Variant
Ataxia-Telangiectasia Variant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 5 0.400 None 1.000 1 5 2013 2013
CUI: C4017102
Disease: ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY
ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY 		disease Finding 2 2 0.100 None 0 2
CUI: C0263606
Disease: Early radiation dermatitis
Early radiation dermatitis 		disease Skin and Connective Tissue Diseases; Wounds and Injuries Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C3249875
Disease: Laryngopharyngeal Cancer
Laryngopharyngeal Cancer 		disease Neoplastic Process 3 0.010 None 1.000 1 2011 2011
CUI: C3547187
Disease: response to metformin
response to metformin 		phenotype Cell Function 3 14 0.100 None 1.000 1 6 2011 2011
CUI: C4024276
Disease: Peripheral Schwannoma
Peripheral Schwannoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4 2 0.100 None 0 1
CUI: C0220702
Disease: SCHIZOPHRENIA 1 (disorder)
SCHIZOPHRENIA 1 (disorder) 		disease Mental Disorders Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2016 2016
CUI: C0555202
Disease: Malignant lymphoma - lymphocytic, intermediate differentiation
Malignant lymphoma - lymphocytic, intermediate differentiation 		disease Neoplastic Process 5 0.300 None 1.000 1 2000 2000
CUI: C0520933
Disease: Abnormal spermatogenesis
Abnormal spermatogenesis 		phenotype Male Urogenital Diseases Finding 5 0.100 None 0
CUI: C3160891
Disease: Hormone-dependent prostate cancer
Hormone-dependent prostate cancer 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 6 0.010 None 1.000 1 2018 2018
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		disease Disease or Syndrome 6 14 0.010 None 1.000 1 2017 2017
CUI: C0029440
Disease: Osteoma
Osteoma 		disease Neoplasms Neoplastic Process 6 1 0.100 None 0 1
CUI: C4023796
Disease: Aplasia/Hypoplasia of the thymus
Aplasia/Hypoplasia of the thymus 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 2015 2015
CUI: C1710547
Disease: Unilateral Breast Carcinoma
Unilateral Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 2 0.010 None < 0.001 1 1 2008 2008
CUI: C4018978
Disease: Unilateral Breast Neoplasms
Unilateral Breast Neoplasms 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 2 0.010 None < 0.001 1 1 2008 2008
CUI: C1334655
Disease: Mediastinal Germ Cell Tumor
Mediastinal Germ Cell Tumor 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 8 2 0.010 None 1.000 1 2014 2014
CUI: C4049615
Disease: Megaureter
Megaureter 		disease Congenital Abnormality 8 0.010 None 1.000 1 1999 1999
CUI: C1399819
Disease: Humoral immunodeficiency
Humoral immunodeficiency 		disease Immune System Diseases Disease or Syndrome 9 4 0.010 None 1.000 1 2002 2002
CUI: C0153579
Disease: Malignant neoplasm of fallopian tube
Malignant neoplasm of fallopian tube 		group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 10 1 0.010 None 1.000 1 2017 2017