Ornithine Carbamoyltransferase Deficiency Gene Set

Dataset	DisGeNET Gene-Disease Associations
Category	disease or phenotype associations
Type	disease
Description	An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. (Human Disease Ontology, DOID_9271)
External Link	https://www.disgenet.org/browser/0/1/0/C0268542
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Genes

15 genes associated with the disease Ornithine Carbamoyltransferase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol	Name
BEST1	bestrophin 1
CPS1	carbamoyl-phosphate synthase 1, mitochondrial
CYP21A2	cytochrome P450, family 21, subfamily A, polypeptide 2
DMD	dystrophin
F7	coagulation factor VII (serum prothrombin conversion accelerator)
GLUL	glutamate-ammonia ligase
GPT	glutamic-pyruvate transaminase (alanine aminotransferase)
MT-CYB	cytochrome b
OTC	ornithine carbamoyltransferase
PLXNA2	plexin A2
PM20D1	peptidase M20 domain containing 1
RPGR	retinitis pigmentosa GTPase regulator
SLC25A15	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
TFEB	transcription factor EB
TSPAN7	tetraspanin 7