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: C0333307
Disease: Superficial ulcer
Superficial ulcer
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.030 None 1.000 3 2008 2019
CUI: C0004277
Disease: Tooth Attrition
Tooth Attrition
disease Stomatognathic Diseases Acquired Abnormality 66 5 0.020 None 1.000 2 2018 2018
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.020 None 1.000 2 2017 2018
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.300 None 1.000 1 2006 2006
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 185 3 0.010 None 1.000 1 2006 2006
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 75 2 0.010 None 1.000 1 2001 2001
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: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 123 10 0.010 None 1.000 1 2018 2018
CUI: C0003855
Disease: Arteriovenous fistula
Arteriovenous fistula
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 93 8 0.010 None 1.000 1 2009 2009
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 47 5 0.010 None 1.000 1 2018 2018
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: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities
disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2012 2012
CUI: C4531138
Disease: Short telomere length
Short telomere length
phenotype Anatomical Abnormality 12 1 0.010 None 1.000 1 2019 2019
Abnormality of bone marrow cell morphology
disease Anatomical Abnormality 15 0.100 None 0
CUI: C4022020
Disease: Mucosal telangiectasiae
Mucosal telangiectasiae
disease Cardiovascular Diseases Anatomical Abnormality 16 0.100 None 0
Abnormality of the gastrointestinal tract
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 14 1 0.100 None 0
CUI: C4023796
Disease: Aplasia/Hypoplasia of the thymus
Aplasia/Hypoplasia of the thymus
disease Anatomical Abnormality 6 0.100 None 0
CUI: C3547187
Disease: response to metformin
response to metformin
phenotype Cell Function 3 14 0.100 None 1.000 1 6 2011 2011
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability
phenotype Cell or Molecular Dysfunction 34 1 0.100 None 0
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.100 None 1.000 21 1997 2019
Hereditary non-polyposis colorectal cancer syndrome
disease Congenital Abnormality 31 0.300 moderate 1.000 6 2012 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.020 None 1.000 2 2005 2011
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 137 35 0.020 None 1.000 2 2020 2020
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.020 None 1.000 2 2012 2018