purine-pyrimidine metabolic disorder Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. (Human Disease Ontology, DOID_653)
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Genes

84 genes co-occuring with the disease purine-pyrimidine metabolic disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
HPRT1 hypoxanthine phosphoribosyltransferase 1 3.99662
APRT adenine phosphoribosyltransferase 2.27217
PRTFDC1 phosphoribosyl transferase domain containing 1 1.75142
DPYD dihydropyrimidine dehydrogenase 1.73231
ADSL adenylosuccinate lyase 1.40701
DPYS dihydropyrimidinase 1.34374
PPAT phosphoribosyl pyrophosphate amidotransferase 1.34286
PRPS1 phosphoribosyl pyrophosphate synthetase 1 1.3276
PNP purine nucleoside phosphorylase 1.32498
PRPS2 phosphoribosyl pyrophosphate synthetase 2 1.17335
ADORA2A adenosine A2a receptor 0.874919
GCHFR GTP cyclohydrolase I feedback regulator 0.86059
ADA adenosine deaminase 0.852811
ADORA2B adenosine A2b receptor 0.817976
NT5E 5'-nucleotidase, ecto (CD73) 0.816745
DRD5 dopamine receptor D5 0.759824
XDH xanthine dehydrogenase 0.75412
DGUOK deoxyguanosine kinase 0.735838
PRPS1L1 phosphoribosyl pyrophosphate synthetase 1-like 1 0.708767
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 0.669936
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 0.631205
RNASE1 ribonuclease, RNase A family, 1 (pancreatic) 0.562169
ADK adenosine kinase 0.529222
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 0.523816
XG Xg blood group 0.522659
ADCY2 adenylate cyclase 2 (brain) 0.503824
EMP2 epithelial membrane protein 2 0.479427
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 0.4443
TPH1 tryptophan hydroxylase 1 0.438658
PDE10A phosphodiesterase 10A 0.438282
SLC29A2 solute carrier family 29 (equilibrative nucleoside transporter), member 2 0.434148
POU3F2 POU class 3 homeobox 2 0.431894
SGPL1 sphingosine-1-phosphate lyase 1 0.428516
LMX1A LIM homeobox transcription factor 1, alpha 0.420641
G6PD glucose-6-phosphate dehydrogenase 0.411283
LPPR4 lipid phosphate phosphatase-related protein type 4 0.398589
PPP1R1B protein phosphatase 1, regulatory (inhibitor) subunit 1B 0.394491
TAC1 tachykinin, precursor 1 0.393374
TH tyrosine hydroxylase 0.385936
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein) 0.381481
EN2 engrailed homeobox 2 0.379256
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 0.339073
MGMT O-6-methylguanine-DNA methyltransferase 0.334315
EN1 engrailed homeobox 1 0.321545
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) 0.31464
DRD1 dopamine receptor D1 0.30631
AMPD1 adenosine monophosphate deaminase 1 0.283655
ACSL1 acyl-CoA synthetase long-chain family member 1 0.280439
SBDS Shwachman-Bodian-Diamond syndrome 0.279724
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 0.279367
AHCY adenosylhomocysteinase 0.26514
PITX3 paired-like homeodomain 3 0.261599
G6PC glucose-6-phosphatase, catalytic subunit 0.252774
UMPS uridine monophosphate synthetase 0.251366
DHODH dihydroorotate dehydrogenase (quinone) 0.241895
GPX5 glutathione peroxidase 5 0.234225
GPX4 glutathione peroxidase 4 0.231102
GPSM2 G-protein signaling modulator 2 0.230063
GPX1 glutathione peroxidase 1 0.217352
SYN1 synapsin I 0.192344
HMGA1 high mobility group AT-hook 1 0.180084
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 0.179239
ASCL1 achaete-scute family bHLH transcription factor 1 0.177851
RHCE Rh blood group, CcEe antigens 0.170544
SLC29A1 solute carrier family 29 (equilibrative nucleoside transporter), member 1 0.165435
SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 0.163111
CHIT1 chitinase 1 (chitotriosidase) 0.143859
TPMT thiopurine S-methyltransferase 0.143815
RRM1 ribonucleotide reductase M1 0.143646
EML4 echinoderm microtubule associated protein like 4 0.143572
KLF4 Kruppel-like factor 4 (gut) 0.143029
MITF microphthalmia-associated transcription factor 0.142596
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit 0.141662
TYMP thymidine phosphorylase 0.141552
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 0.141474
VAV3 vav 3 guanine nucleotide exchange factor 0.141
DLG1 discs, large homolog 1 (Drosophila) 0.140704
KRAS Kirsten rat sarcoma viral oncogene homolog 0.140496
HRAS Harvey rat sarcoma viral oncogene homolog 0.139011
HLA-DOB major histocompatibility complex, class II, DO beta 0.137189
COL11A1 collagen, type XI, alpha 1 0.136063
WNT1 wingless-type MMTV integration site family, member 1 0.134771
COMT catechol-O-methyltransferase 0.134538
NGF nerve growth factor (beta polypeptide) 0.134517