ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 149; N. variants: 29
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: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME
disease Disease or Syndrome 1 17 0.760 None 1.000 8 17 2013 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.300 None 1.000 2 2017 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.300 None 1.000 1 2018 2018
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 83 0.300 None 1.000 1 2018 2018
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 1 2018 2018
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 1 2018 2018
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 485 24 0.300 None 1.000 1 2015 2015
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 0.130 None 1.000 3 2016 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.130 None 0.667 3 1 2013 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.120 None 0.500 2 2013 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.110 None 1.000 10 3 2011 2017
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.110 None 1.000 2 1 2016 2016
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 311 74 0.110 None 1.000 1 1 2016 2016
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.110 None 1.000 1 2016 2016
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.110 None 1.000 1 2016 2016
CUI: C0700201
Disease: Dyssomnias
Dyssomnias
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 236 10 0.110 None 1.000 1 2016 2016
CUI: C0431447
Disease: Synophrys
Synophrys
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.110 None 1.000 1 2017 2017
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 0.110 None 1.000 1 2016 2016
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 9 1 2011 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 9 3 2011 2017
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 3 3 2018 2019
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 28 5 0.100 None 1.000 1 1 2016 2016
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery
phenotype Pathologic Function 10 10 0.100 None 1.000 1 1 2016 2016
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
disease Musculoskeletal Diseases Anatomical Abnormality 155 17 0.100 None 1.000 1 1 2016 2016
CUI: C0578038
Disease: Thin lips
Thin lips
phenotype Finding 99 8 0.100 None 1.000 1 1 2016 2016