HTT, huntingtin, 3064

N. diseases: 188; N. variants: 32
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: C0020179
Disease: Huntington Disease
Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 1.000 limited 0.987 1305 21 1993 2020
CUI: C4479491
Disease: LOPES-MACIEL-RODAN SYNDROME
LOPES-MACIEL-RODAN SYNDROME
disease Disease or Syndrome 1 4 0.600 moderate 1.000 2 4 2016 2016
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 12 0.530 None 1.000 15 2004 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.440 None 1.000 5 2004 2016
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.420 None 1.000 6 2004 2017
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.320 None 1.000 6 2004 2017
Akinetic-Rigid Variant of Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 12 0.300 None 1.000 11 2004 2017
CUI: C0393574
Disease: Huntington Disease, Late Onset
Huntington Disease, Late Onset
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 12 0.300 None 1.000 11 2004 2017
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.300 None 1.000 2 2013 2013
CUI: C0677050
Disease: Manganese Poisoning
Manganese Poisoning
disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 16 0.300 None 1.000 1 2010 2010
CUI: C0266487
Disease: Etat Marbre
Etat Marbre
disease Nervous System Diseases Disease or Syndrome 23 0.300 None 1.000 1 2011 2011
CUI: C0006635
Disease: Cadmium poisoning
Cadmium poisoning
disease Chemically-Induced Disorders Injury or Poisoning 8 0.300 None 1.000 1 2010 2010
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 0.300 moderate 1.000 1 2016 2016
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60
disease Mental or Behavioral Dysfunction 2 2 0.300 limited 0
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 344 16 0.200 None 1.000 1 2003 2003
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.170 None 1.000 7 1999 2019
CUI: C0008489
Disease: Chorea
Chorea
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 168 20 0.160 None 1.000 6 2002 2019
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.130 None 1.000 3 1997 2017
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.120 None 1.000 2 1995 2016
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.120 None 1.000 2 2008 2011
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.110 None 1.000 2 1 2010 2019
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.110 None 1.000 1 2016 2016
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 0.110 None 1.000 1 2014 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.100 None 1.000 231 1994 2020
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 1.000 15 2009 2019