HIBCH, 3-hydroxyisobutyryl-CoA hydrolase, 26275

N. diseases: 60; N. variants: 10
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.
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 4 0.710 definitive 1.000 10 4 1982 2019
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans
disease Musculoskeletal Diseases Disease or Syndrome 96 1 0.300 None 1.000 1 2009 2009
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.300 None 1.000 1 2009 2009
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.110 None 1.000 1 1 2019 2019
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 7 3 2007 2015
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology
phenotype Finding 28 0.100 None 0
CUI: C1608410
Disease: Head titubation
Head titubation
phenotype Sign or Symptom 7 1 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.100 None 0
CUI: C0700201
Disease: Dyssomnias
Dyssomnias
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 236 10 0.100 None 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
phenotype Nervous System Diseases Finding 152 7 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Mental Disorders Finding 384 34 0.100 None 0
Progressive neurologic deterioration
phenotype Mental Disorders Finding 33 5 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE
phenotype Finding 140 0.100 None 0
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C4022769
Disease: Small basal ganglia
Small basal ganglia
phenotype Finding 10 0.100 None 0
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column
phenotype Anatomical Abnormality 24 5 0.100 None 0
Abnormality of mitochondrial metabolism
phenotype Finding 21 3 0.100 None 0
CUI: C4021159
Disease: Facial shape deformation
Facial shape deformation
phenotype Anatomical Abnormality 1 0.100 None 0