Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1969443
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Genes

22 genes associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACADVL acyl-CoA dehydrogenase, very long chain
CHPT1 choline phosphotransferase 1
COX5A cytochrome c oxidase subunit Va
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CPOX coproporphyrinogen oxidase
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
DHDDS dehydrodolichyl diphosphate synthase
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
GAA glucosidase, alpha; acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GFM2 G elongation factor, mitochondrial 2
HADH hydroxyacyl-CoA dehydrogenase
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
MRRF mitochondrial ribosome recycling factor
MT1B metallothionein 1B
MTTP microsomal triglyceride transfer protein
PTEN phosphatase and tensin homolog
SCO2 SCO2 cytochrome c oxidase assembly protein
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
TRIM39 tripartite motif containing 39