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: C3281203
Disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL 		disease Neoplastic Process 1 1 0.700 None 1.000 2 1 1990 2012
CUI: C0796046
Disease: Gurrieri Sammito Bellussi syndrome
Gurrieri Sammito Bellussi syndrome 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.010 None 1.000 1 2001 2001
CUI: C1856911
Disease: Ivory epiphyses
Ivory epiphyses 		phenotype Finding 1 0.100 None 0
CUI: C1859478
Disease: Hypoplasia of proximal fibula
Hypoplasia of proximal fibula 		phenotype Finding 1 0.100 None 0
CUI: C1859477
Disease: Hypoplasia of proximal radius
Hypoplasia of proximal radius 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 3 8 0.610 None 1.000 2 8 2003 2009
CUI: C1859481
Disease: Abnormal finger flexion creases
Abnormal finger flexion creases 		phenotype Finding 3 1 0.100 None 0
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 14 0.010 None 1.000 1 2005 2005
CUI: C1563697
Disease: Chromosome Instability Syndromes
Chromosome Instability Syndromes 		disease Nutritional and Metabolic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2006 2006
CUI: C0043345
Disease: Xeroderma
Xeroderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2017 2017
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 8 31 0.010 None 1.000 1 2014 2014
CUI: C1970308
Disease: Selective tooth agenesis
Selective tooth agenesis 		phenotype Finding 8 0.100 None 0
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 9 58 0.010 None 1.000 1 2014 2014
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 9 0.200 None 0
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		phenotype Finding 11 4 0.100 None 0
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 12 0.200 None 0
CUI: C0004681
Disease: Bagassosis
Bagassosis 		disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 14 0.300 None 1.000 1 2015 2015
CUI: C1849364
Disease: Absent earlobe
Absent earlobe 		phenotype Congenital Abnormality 14 1 0.100 None 0
CUI: C3494623
Disease: Mild dementia
Mild dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 16 0.010 None 1.000 1 2013 2013
CUI: C1855852
Disease: Abnormally large globe
Abnormally large globe 		phenotype Finding 16 1 0.100 None 0
CUI: C0153943
Disease: Benign neoplasm of stomach
Benign neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 17 0.300 None 0
CUI: C0496905
Disease: Neoplasm of uncertain or unknown behavior of stomach
Neoplasm of uncertain or unknown behavior of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 17 0.300 None 0
CUI: C0346191
Disease: Carcinoma in situ of endometrium
Carcinoma in situ of endometrium 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 18 0.300 None 0
CUI: C0154060
Disease: Carcinoma in situ of stomach
Carcinoma in situ of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 19 0.300 None 0
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 19 11 0.100 None 0