CRAT, carnitine O-acetyltransferase, 1384

N. diseases: 59; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138665095
rs138665095
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C4693587
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 		0.800 GeneticVariation UNIPROT
dbSNP: rs138665095
rs138665095
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C4693587
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs141970897
rs141970897
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0035229
Disease:
Respiratory Insufficiency 		C 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
dbSNP: rs141970897
rs141970897
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C1443228
Disease:
Carnitine Acetyltransferase Deficiency 		C 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
dbSNP: rs141970897
rs141970897
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
dbSNP: rs141970897
rs141970897
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C2315100
Disease:
Pediatric failure to thrive 		C 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
dbSNP: rs141970897
rs141970897
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0036572
Disease:
Seizures 		C 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
dbSNP: rs141970897
rs141970897
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C2751582
Disease:
Mitochondrial respiratory chain defects 		C 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
dbSNP: rs141970897
rs141970897
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0029089
Disease:
Ophthalmoplegia 		C 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
dbSNP: rs762425351
rs762425351
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0036572
Disease:
Seizures 		T 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
dbSNP: rs762425351
rs762425351
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
dbSNP: rs762425351
rs762425351
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C2315100
Disease:
Pediatric failure to thrive 		T 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
dbSNP: rs762425351
rs762425351
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0029089
Disease:
Ophthalmoplegia 		T 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
dbSNP: rs762425351
rs762425351
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C2751582
Disease:
Mitochondrial respiratory chain defects 		T 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
dbSNP: rs762425351
rs762425351
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C1443228
Disease:
Carnitine Acetyltransferase Deficiency 		T 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
dbSNP: rs762425351
rs762425351
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0035229
Disease:
Respiratory Insufficiency 		T 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
dbSNP: rs7866897
rs7866897
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10988207
rs10988207
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0427460
Disease:
Red cell distribution width determination 		A 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs10988207
rs10988207
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		A 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs10988207
rs10988207
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs10988207
rs10988207
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0427460
Disease:
Red cell distribution width determination 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs138665095
rs138665095
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C1854838
Disease:
Progressive neurologic deterioration 		T 0.700 CausalMutation CLINVAR
dbSNP: rs141970897
rs141970897
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0023264
Disease:
Leigh Disease 		0.010 GeneticVariation BEFREE By performing whole-exome sequencing in a girl affected by Leigh syndrome and her parents, we identified two heterozygous missense variants (p.Tyr110Cys and p.Val569Met) in the carnitine acetyltransferase (CRAT) gene, encoding an enzyme involved in the control of mitochondrial short-chain acyl-CoA concentrations. 31448845 2020
dbSNP: rs762425351
rs762425351
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0023264
Disease:
Leigh Disease 		0.010 GeneticVariation BEFREE By performing whole-exome sequencing in a girl affected by Leigh syndrome and her parents, we identified two heterozygous missense variants (p.Tyr110Cys and p.Val569Met) in the carnitine acetyltransferase (CRAT) gene, encoding an enzyme involved in the control of mitochondrial short-chain acyl-CoA concentrations. 31448845 2020