CRAT, carnitine O-acetyltransferase, 1384

N. diseases: 9; N. variants: 3
Source: CLINVAR ×
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: C4693587
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 		disease Disease or Syndrome 1 1 0.600 None 1.000 0 1 2018 2018
CUI: C1443228
Disease: Carnitine Acetyltransferase Deficiency
Carnitine Acetyltransferase Deficiency 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 1 2 0.110 None 1.000 1 2 2020 2020
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 336 579 0.100 None 1.000 1 2 2020 2020
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 4 8 0.100 None 1.000 1 2 2020 2020
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype Respiratory Tract Diseases Pathologic Function 11 15 0.100 None 1.000 1 2 2020 2020
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 237 417 0.100 None 1.000 1 2 2020 2020
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 89 118 0.100 None 1.000 1 2 2020 2020
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		phenotype Finding 3 4 0.100 None 1.000 1 2 2020 2020
CUI: C1854838
Disease: Progressive neurologic deterioration
Progressive neurologic deterioration 		phenotype Mental Disorders Finding 4 5 0.100 None 0 1