Pentosuria Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. (Orphanet Rare Disease Ontology, Orphanet_2843)
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Genes

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

Symbol Name Standardized Value
DCXR dicarbonyl/L-xylulose reductase 2.969
HGD homogentisate 1,2-dioxygenase 2.13
XYLB xylulokinase homolog (H. influenzae) 2.11
FCSK fucose kinase 1.948
CRYL1 crystallin, lambda 1 1.919
UGT3A2 UDP glycosyltransferase 3 family, polypeptide A2 1.856
UGT3A1 UDP glycosyltransferase 3 family, polypeptide A1 1.824
AMT aminomethyltransferase 1.821
HPD 4-hydroxyphenylpyruvate dioxygenase 1.744
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha 1.722
ALX1 ALX homeobox 1 1.706
GK glycerol kinase 1.469
SORD sorbitol dehydrogenase 1.467
UGT8 UDP glycosyltransferase 8 1.444
PGP phosphoglycolate phosphatase 1.364
KHK ketohexokinase (fructokinase) 1.322
CYB5R1 cytochrome b5 reductase 1 1.317
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 1.159
G6PD glucose-6-phosphate dehydrogenase 1.151
GCK glucokinase (hexokinase 4) 1.13
PEX12 peroxisomal biogenesis factor 12 1.069
DNAJC12 DnaJ (Hsp40) homolog, subfamily C, member 12 1.05
OPLAH 5-oxoprolinase (ATP-hydrolysing) 1.046
AGXT2 alanine--glyoxylate aminotransferase 2 1.034
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 1.016