systemic primary carnitine deficiency disease Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. (Human Disease Ontology, DOID_14365)
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25 genes co-occuring with the disease systemic primary carnitine deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 3.10017
ETFDH electron-transferring-flavoprotein dehydrogenase 1.82595
CPT2 carnitine palmitoyltransferase 2 1.50359
ABHD5 abhydrolase domain containing 5 1.46276
SLC22A2 solute carrier family 22 (organic cation transporter), member 2 1.35376
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 1.26168
ACADVL acyl-CoA dehydrogenase, very long chain 1.23516
ETFB electron-transfer-flavoprotein, beta polypeptide 1.22865
PNPLA2 patatin-like phospholipase domain containing 2 1.09251
CPS1 carbamoyl-phosphate synthase 1, mitochondrial 1.05976
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 0.996127
NAGS N-acetylglutamate synthase 0.9898
SLC43A2 solute carrier family 43 (amino acid system L transporter), member 2 0.97338
CRAT carnitine O-acetyltransferase 0.85404
ETFA electron-transfer-flavoprotein, alpha polypeptide 0.832329
FLOT1 flotillin 1 0.826999
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 0.791721
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 0.755749
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.653276
PC pyruvate carboxylase 0.598351
PTS 6-pyruvoyltetrahydropterin synthase 0.587054
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 0.307395
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 0.283297
CAV1 caveolin 1, caveolae protein, 22kDa 0.243995
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 0.224196