CRAT, carnitine O-acetyltransferase, 1384

N. diseases: 59; N. variants: 5
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs138665095
rs138665095 		1.000 9 129100533 missense variant C/T snv 6.4E-05 1.4E-05
CUI: C4693587
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 		0.800 0
dbSNP: rs10988207
rs10988207 		9 129104851 intron variant G/A;C;T snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 2 2016 2017
dbSNP: rs10988207
rs10988207 		9 129104851 intron variant G/A;C;T snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 2 2016 2017
dbSNP: rs141970897
rs141970897 		0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2020 2020
dbSNP: rs141970897
rs141970897 		0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2020 2020
dbSNP: rs141970897
rs141970897 		0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		Respiratory Tract Diseases 0.700 1.000 1 2020 2020
dbSNP: rs141970897
rs141970897 		0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04
CUI: C1443228
Disease: Carnitine Acetyltransferase Deficiency
Carnitine Acetyltransferase Deficiency 		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 0.700 1.000 1 2020 2020
dbSNP: rs141970897
rs141970897 		0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2020 2020
dbSNP: rs141970897
rs141970897 		0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2020 2020
dbSNP: rs141970897
rs141970897 		0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		0.700 1.000 1 2020 2020
dbSNP: rs762425351
rs762425351 		0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2020 2020
dbSNP: rs762425351
rs762425351 		0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		0.700 1.000 1 2020 2020
dbSNP: rs762425351
rs762425351 		0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05
CUI: C1443228
Disease: Carnitine Acetyltransferase Deficiency
Carnitine Acetyltransferase Deficiency 		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 0.700 1.000 1 2020 2020
dbSNP: rs762425351
rs762425351 		0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2020 2020
dbSNP: rs762425351
rs762425351 		0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2020 2020
dbSNP: rs762425351
rs762425351 		0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		Respiratory Tract Diseases 0.700 1.000 1 2020 2020
dbSNP: rs762425351
rs762425351 		0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2020 2020
dbSNP: rs7866897
rs7866897 		9 129100800 intron variant T/C snv 0.65
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs138665095
rs138665095 		1.000 9 129100533 missense variant C/T snv 6.4E-05 1.4E-05
CUI: C1854838
Disease: Progressive neurologic deterioration
Progressive neurologic deterioration 		Mental Disorders 0.700 0
dbSNP: rs141970897
rs141970897 		0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs762425351
rs762425351 		0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2020 2020