ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; 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: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 48 9 0.300 None 1.000 1 2009 2009
CUI: C1328479
Disease: Pancreatic Endocrine Carcinoma
Pancreatic Endocrine Carcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 29 0.300 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.200 None 1.000 26 1996 2019
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.200 None 1.000 15 1 1996 2017
CUI: C2873755
Disease: Triple gene defect alpha thalassemia
Triple gene defect alpha thalassemia 		disease Disease or Syndrome 1 0.200 None 0
CUI: C2873754
Disease: Severe alpha thalassemia
Severe alpha thalassemia 		disease Disease or Syndrome 3 0.200 None 0
CUI: C3161173
Disease: Hemoglobin H Constant Spring
Hemoglobin H Constant Spring 		disease Disease or Syndrome 1 0.200 None 0
CUI: C0272005
Disease: Hemoglobin Bart's hydrops syndrome
Hemoglobin Bart's hydrops syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.200 None 0
CUI: C3161175
Disease: Hydrops fetalis due to alpha thalassemia
Hydrops fetalis due to alpha thalassemia 		disease Disease or Syndrome 1 0.200 None 0
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.150 None 0.800 5 1 2011 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		disease Neoplasms Neoplastic Process 165 36 0.130 None 1.000 3 2015 2019
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.130 None 1.000 3 1 2000 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 3 2018 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.110 None 1.000 1 2015 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.110 None 1.000 1 2019 2019
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 251 94 0.110 None 1.000 1 2002 2002
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.110 None 1.000 1 2003 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.980 49 1999 2020
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 21 2 1992 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 21 1 1992 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 21 1 1992 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 21 2 1992 2017
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 92 16 0.100 None 1.000 17 1 1996 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.100 None 1.000 17 2012 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		disease Neoplasms Neoplastic Process 985 59 0.100 None 1.000 16 2012 2020