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: 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: C0474702
Disease: Sulfate measurement
Sulfate measurement 		phenotype Laboratory Procedure 2 3 0.100 None 1.000 1 1 2016 2016
CUI: C4479476
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 		disease Mental or Behavioral Dysfunction 2 2 0.300 limited 0
CUI: C0393578
Disease: Pallidoluysian degeneration
Pallidoluysian degeneration 		disease Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 1998 1998
CUI: C1859098
Disease: Chorea, Benign Familial
Chorea, Benign Familial 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 1996 1996
CUI: C4022592
Disease: Oral motor hypotonia
Oral motor hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 1 0.100 None 0
CUI: C1334804
Disease: Motor Manifestations
Motor Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 5 0.010 None < 0.001 1 2016 2016
CUI: C3273225
Disease: Hereditary Neurodegenerative Disorder
Hereditary Neurodegenerative Disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.040 None 1.000 4 2010 2017
CUI: C3711380
Disease: Huntington Disease-Like Syndrome
Huntington Disease-Like Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2016 2016
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		disease Anatomical Abnormality 6 2 0.100 None 0
CUI: C0270814
Disease: Spastic syndrome
Spastic syndrome 		disease Nervous System Diseases Disease or Syndrome 7 0.020 None 1.000 2 2016 2016
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 3 0.010 None 1.000 1 2001 2001
CUI: C0742078
Disease: Mass lesion of brain
Mass lesion of brain 		disease Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C0006635
Disease: Cadmium poisoning
Cadmium poisoning 		disease Chemically-Induced Disorders Injury or Poisoning 8 0.300 None 1.000 1 2010 2010
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 45 0.010 None 1.000 1 2018 2018
CUI: C2750913
Disease: Neuronal loss in basal ganglia
Neuronal loss in basal ganglia 		phenotype Finding 8 0.100 None 0
CUI: C0022360
Disease: Jaw Abnormalities
Jaw Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 9 0.010 None < 0.001 1 2009 2009
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: 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: C0751207
Disease: Akinetic-Rigid Variant of Huntington Disease
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: 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: C2220255
Disease: Motor disturbances
Motor disturbances 		phenotype Sign or Symptom 16 1 0.010 None 1.000 1 2014 2014
CUI: C0751870
Disease: Heredodegenerative Disorders, Nervous System
Heredodegenerative Disorders, Nervous System 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 18 0.030 None 1.000 3 2009 2018
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 18 1 0.010 None 1.000 1 2016 2016
CUI: C0751706
Disease: Primary Progressive Nonfluent Aphasia
Primary Progressive Nonfluent Aphasia 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 21 13 0.010 None 1.000 1 2020 2020