CRAT, carnitine O-acetyltransferase, 1384

N. diseases: 59; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693587
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 		0.600 Biomarker disease GENOMICS_ENGLAND Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. 29395073 2018
CUI: C4693587
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 		0.600 GeneticVariation disease UNIPROT Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. 29395073 2018
CUI: C4693587
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 		0.600 GeneticVariation disease CLINVAR
CUI: C1443228
Disease: Carnitine Acetyltransferase Deficiency
Carnitine Acetyltransferase Deficiency 		0.110 GeneticVariation phenotype BEFREE Although a single recessive variant in CRAT has been recently associated with neurodegeneration with brain iron accumulation (NBIA), this study reports the first kinetic analysis of naturally occurring CRAT variants and demonstrates the genetic basis of carnitine acetyltransferase deficiency in a case of mitochondrial encephalopathy. 31448845 2020
CUI: C1443228
Disease: Carnitine Acetyltransferase Deficiency
Carnitine Acetyltransferase Deficiency 		0.110 GeneticVariation phenotype CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.100 GeneticVariation phenotype CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 GeneticVariation phenotype CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation disease CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		0.100 GeneticVariation phenotype CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		0.100 Biomarker disease HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		0.100 Biomarker phenotype HPO