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: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 29 0.040 None 1.000 4 2004 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.030 None 1.000 3 2018 2020
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: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		disease Neoplasms Neoplastic Process 154 19 0.030 None 1.000 3 2015 2019
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		disease Neoplasms Neoplastic Process 154 19 0.030 None 1.000 3 2015 2019
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma 		disease Neoplasms Neoplastic Process 92 10 0.030 None 1.000 3 2018 2019
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
Childhood Pilocytic Astrocytoma 		disease Neoplasms Neoplastic Process 97 10 0.030 None 1.000 3 2018 2019
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome 		disease Hemic and Lymphatic Diseases Neoplastic Process 335 20 0.030 None 1.000 3 2005 2019
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		disease Hemic and Lymphatic Diseases Neoplastic Process 332 20 0.030 None 1.000 3 2005 2019
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.030 None 1.000 3 2015 2016
CUI: C0014474
Disease: Ependymoma
Ependymoma 		disease Neoplasms Neoplastic Process 244 8 0.020 None 1.000 2 2017 2019
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.020 None 1.000 2 2003 2008
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.020 None 1.000 2 2008 2019
CUI: C0023524
Disease: Leukoencephalopathy, Progressive Multifocal
Leukoencephalopathy, Progressive Multifocal 		disease Infections; Nervous System Diseases Disease or Syndrome 240 4 0.020 None 1.000 2 2017 2019
CUI: C0259783
Disease: mixed gliomas
mixed gliomas 		disease Neoplasms Neoplastic Process 76 0.300 None 1.000 2 2013 2014
CUI: C0278874
Disease: Adult Ependymoma
Adult Ependymoma 		disease Neoplasms Neoplastic Process 144 3 0.020 None 1.000 2 2017 2019
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		disease Neoplasms Neoplastic Process 202 12 0.020 None 1.000 2 2014 2018
CUI: C0585216
Disease: Alpha-Thalassemia Myelodysplasia Syndrome
Alpha-Thalassemia Myelodysplasia Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Neoplastic Process 4 3 0.710 moderate 1.000 2 3 2003 2006
CUI: C0796159
Disease: Mental retardation Smith Fineman Myers type
Mental retardation Smith Fineman Myers type 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.310 None 1.000 2 2000 2000
CUI: C0796611
Disease: Newly Diagnosed Childhood Ependymoma
Newly Diagnosed Childhood Ependymoma 		disease Neoplasms Neoplastic Process 144 3 0.020 None 1.000 2 2017 2019
CUI: C1337011
Disease: Well Differentiated Pancreatic Endocrine Tumor
Well Differentiated Pancreatic Endocrine Tumor 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 117 3 0.020 None 1.000 2 2014 2017
CUI: C1851584
Disease: Childhood Ependymoma
Childhood Ependymoma 		disease Neoplasms Neoplastic Process 147 3 0.020 None 1.000 2 2017 2019
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.020 None 0.500 2 2011 2016
CUI: C2745900
Disease: Promyelocytic leukemia
Promyelocytic leukemia 		disease Neoplastic Process 255 2 0.020 None 1.000 2 2008 2019