urea cycle disorder 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 a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. (Human Disease Ontology, DOID_9267)
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Genes

68 genes co-occuring with the disease urea cycle disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
OTC ornithine carbamoyltransferase 3.57598
ASS1 argininosuccinate synthase 1 2.35304
ASL argininosuccinate lyase 2.32826
NAGS N-acetylglutamate synthase 2.22339
ARG1 arginase 1 1.7446
CPS1 carbamoyl-phosphate synthase 1, mitochondrial 1.58671
TSPAN7 tetraspanin 7 1.12108
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 1.06774
UPB1 ureidopropionase, beta 1.02018
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 1.00203
DYNLT3 dynein, light chain, Tctex-type 3 0.999924
RPGR retinitis pigmentosa GTPase regulator 0.939119
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 0.900746
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing 0.848307
MID1IP1 MID1 interacting protein 1 0.77575
XK X-linked Kx blood group 0.759416
OPLAH 5-oxoprolinase (ATP-hydrolysing) 0.743954
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 0.729357
MMD monocyte to macrophage differentiation-associated 0.714811
MVD mevalonate (diphospho) decarboxylase 0.675112
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 0.557897
THEM5 thioesterase superfamily member 5 0.545481
PANK1 pantothenate kinase 1 0.541605
ENO3 enolase 3 (beta, muscle) 0.533861
CUTA cutA divalent cation tolerance homolog (E. coli) 0.530381
ACADVL acyl-CoA dehydrogenase, very long chain 0.528835
CYBB cytochrome b-245, beta polypeptide 0.49274
MRPL49 mitochondrial ribosomal protein L49 0.438282
GALK1 galactokinase 1 0.422515
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 0.404184
GYPA glycophorin A (MNS blood group) 0.378885
NT5E 5'-nucleotidase, ecto (CD73) 0.368888
HPN hepsin 0.366671
UMPS uridine monophosphate synthetase 0.347511
HMOX2 heme oxygenase 2 0.341272
GK glycerol kinase 0.336144
HADH hydroxyacyl-CoA dehydrogenase 0.333949
FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 0.331025
APRT adenine phosphoribosyltransferase 0.304864
GSS glutathione synthetase 0.301254
ADSL adenylosuccinate lyase 0.277584
UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3 0.247501
PTS 6-pyruvoyltetrahydropterin synthase 0.236312
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10 0.220424
UGT1A8 UDP glucuronosyltransferase 1 family, polypeptide A8 0.220081
UGT1A5 UDP glucuronosyltransferase 1 family, polypeptide A5 0.218034
UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4 0.215992
GLS glutaminase 0.204923
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 0.204263
UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7 0.197099
UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9 0.195501
MUT methylmalonyl CoA mutase 0.190786
DNAH8 dynein, axonemal, heavy chain 8 0.190168
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 0.165655
BECN1 beclin 1, autophagy related 0.142954
GPX5 glutathione peroxidase 5 0.140472
GPX4 glutathione peroxidase 4 0.140418
GPX1 glutathione peroxidase 1 0.140133
BCHE butyrylcholinesterase 0.139351
ACHE acetylcholinesterase (Yt blood group) 0.13902
CAT catalase 0.13866
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 0.138614
GBA glucosidase, beta, acid 0.135068
SOD2 superoxide dismutase 2, mitochondrial 0.134807
PNP purine nucleoside phosphorylase 0.132588
SRPR signal recognition particle receptor (docking protein) 0.132057
CHAT choline O-acetyltransferase 0.130029
DPYD dihydropyrimidine dehydrogenase 0.127185