CRAT, carnitine O-acetyltransferase, 1384

N. diseases: 59; N. variants: 5
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 ×
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