Xanthinuria Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. (Human Disease Ontology, DOID_0060236)
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Genes

105 genes co-occuring with the disease Xanthinuria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
MOCOS molybdenum cofactor sulfurase 3.484
AOX1 aldehyde oxidase 1 3.039
XDH xanthine dehydrogenase 2.961
SUOX sulfite oxidase 2.737
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12 2.567
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 2.533
MOCS1 molybdenum cofactor synthesis 1 2.495
MOCS2 molybdenum cofactor synthesis 2 2.292
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 2.185
APRT adenine phosphoribosyltransferase 2.144
AGXT alanine-glyoxylate aminotransferase 2.048
HPRT1 hypoxanthine phosphoribosyltransferase 1 2.041
PNP purine nucleoside phosphorylase 1.976
GDA guanine deaminase 1.912
GRHPR glyoxylate reductase/hydroxypyruvate reductase 1.898
HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 1.896
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 1.869
ADSL adenylosuccinate lyase 1.845
CLDN16 claudin 16 1.84
SLC17A1 solute carrier family 17 (organic anion transporter), member 1 1.697
ACOX1 acyl-CoA oxidase 1, palmitoyl 1.69
SLC17A3 solute carrier family 17 (organic anion transporter), member 3 1.639
SLC26A1 solute carrier family 26 (anion exchanger), member 1 1.587
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3 1.517
TEX44 testis expressed 44 1.512
GPHN gephyrin 1.505
UBTD1 ubiquitin domain containing 1 1.492
CLCN5 chloride channel, voltage-sensitive 5 1.479
UPB1 ureidopropionase, beta 1.446
UMOD uromodulin 1.441
OR13F1 olfactory receptor, family 13, subfamily F, member 1 1.436
OR10G4 olfactory receptor, family 10, subfamily G, member 4 1.399
TPMT thiopurine S-methyltransferase 1.396
PAAF1 proteasomal ATPase-associated factor 1 1.393
AVP arginine vasopressin 1.389
MLYCD malonyl-CoA decarboxylase 1.376
TBCK TBC1 domain containing kinase 1.364
PRPS1 phosphoribosyl pyrophosphate synthetase 1 1.355
SLC22A13 solute carrier family 22 (organic anion/urate transporter), member 13 1.349
ALDH16A1 aldehyde dehydrogenase 16 family, member A1 1.345
UMPS uridine monophosphate synthetase 1.345
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 1.333
PABPC4L poly(A) binding protein, cytoplasmic 4-like 1.327
OCRL oculocerebrorenal syndrome of Lowe 1.307
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 1.276
MDN1 MDN1, midasin homolog (yeast) 1.27
NT5C3A 5'-nucleotidase, cytosolic IIIA 1.259
CYB5B cytochrome b5 type B (outer mitochondrial membrane) 1.228
XPA xeroderma pigmentosum, complementation group A 1.221
OR2C1 olfactory receptor, family 2, subfamily C, member 1 1.214
CLDN19 claudin 19 1.202
MFSD5 major facilitator superfamily domain containing 5 1.201
GINM1 glycoprotein integral membrane 1 1.193
AGXT2 alanine--glyoxylate aminotransferase 2 1.184
NANS N-acetylneuraminic acid synthase 1.183
CYB5A cytochrome b5 type A (microsomal) 1.179
LEO1 Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 1.175
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) 1.168
CASR calcium-sensing receptor 1.151
ZNF740 zinc finger protein 740 1.146
CPS1 carbamoyl-phosphate synthase 1, mitochondrial 1.141
SLC28A1 solute carrier family 28 (concentrative nucleoside transporter), member 1 1.139
OR4C3 olfactory receptor, family 4, subfamily C, member 3 1.139
SLC22A11 solute carrier family 22 (organic anion/urate transporter), member 11 1.138
ACR acrosin 1.137
DPYS dihydropyrimidinase 1.127
MOCS3 molybdenum cofactor synthesis 3 1.123
UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa 1.108
KCNJ4 potassium channel, inwardly rectifying subfamily J, member 4 1.108
DGUOK deoxyguanosine kinase 1.097
KCNJ12 potassium channel, inwardly rectifying subfamily J, member 12 1.093
ITIH6 inter-alpha-trypsin inhibitor heavy chain family, member 6 1.092
MT1H metallothionein 1H 1.09
PPAT phosphoribosyl pyrophosphate amidotransferase 1.088
TRPV5 transient receptor potential cation channel, subfamily V, member 5 1.087
GAL3ST3 galactose-3-O-sulfotransferase 3 1.086
C6ORF141 chromosome 6 open reading frame 141 1.08
SLC5A6 solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 1.079
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase) 1.079
UQCRB ubiquinol-cytochrome c reductase binding protein 1.072
PDP2 pyruvate dehyrogenase phosphatase catalytic subunit 2 1.07
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 1.069
SLC9A2 solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 1.068
ADA adenosine deaminase 1.065
CYB5RL cytochrome b5 reductase-like 1.062
IGSF6 immunoglobulin superfamily, member 6 1.055
SLC22A6 solute carrier family 22 (organic anion transporter), member 6 1.054
INSRR insulin receptor-related receptor 1.053
DNAH8 dynein, axonemal, heavy chain 8 1.045
ERMAP erythroblast membrane-associated protein (Scianna blood group) 1.044
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) 1.044
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 1.035
MYL1 myosin, light chain 1, alkali; skeletal, fast 1.028
BTN1A1 butyrophilin, subfamily 1, member A1 1.027
CYB5R4 cytochrome b5 reductase 4 1.025
BTNL3 butyrophilin-like 3 1.02
NAGS N-acetylglutamate synthase 1.019
CWC25 CWC25 spliceosome-associated protein homolog (S. cerevisiae) 1.018
CYB5R2 cytochrome b5 reductase 2 1.011
TLCD1 TLC domain containing 1 1.009
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 1.009
SPATA17 spermatogenesis associated 17 1.007
BTN2A2 butyrophilin, subfamily 2, member A2 1.007
CYB5R1 cytochrome b5 reductase 1 1.005
LGALS4 lectin, galactoside-binding, soluble, 4 1.004