ANK3, ankyrin 3, 288

N. diseases: 106; N. variants: 58
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: C0001807
Disease: Aggressive behavior
Aggressive behavior 		phenotype Behavior and Behavior Mechanisms Individual Behavior 176 22 0.100 None 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.100 None 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C0006325
Disease: Bruxism
Bruxism 		phenotype Stomatognathic Diseases Mental or Behavioral Dysfunction 24 9 0.100 None 0
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 0.100 None 0
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype Anatomical Abnormality 104 131 0.100 None 0 1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 43 10 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group Nervous System Diseases Disease or Syndrome 512 264 0.010 None < 0.001 1 1 2011 2011
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		disease Mental Disorders Mental or Behavioral Dysfunction 641 225 0.040 None 0.750 4 1 2011 2018
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 423 112 0.050 None 0.800 5 1 2011 2015
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 221 82 0.050 None 0.800 5 1 2011 2015
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.700 None 1.000 60 38 2008 2020
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.500 None 1.000 26 12 2009 2018
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.130 None 1.000 5 5 2011 2018
CUI: C0004936
Disease: Mental disorders
Mental disorders 		group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.040 None 1.000 4 2 2013 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.040 None 1.000 4 2012 2020
CUI: C0338831
Disease: Manic
Manic 		disease Mental Disorders Mental or Behavioral Dysfunction 166 8 0.300 None 1.000 3 2008 2019