abnormality of purine metabolism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004352
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24 genes associated with the abnormality of purine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALDOB aldolase B, fructose-bisphosphate
ALMS1 Alstrom syndrome protein 1
CLDN16 claudin 16
G6PC glucose-6-phosphatase, catalytic subunit
HNF1B HNF1 homeobox B
HPRT1 hypoxanthine phosphoribosyltransferase 1
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MUC1 mucin 1, cell surface associated
PFKM phosphofructokinase, muscle
PNP purine nucleoside phosphorylase
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PRPS1 phosphoribosyl pyrophosphate synthetase 1
REN renin
SARS2 seryl-tRNA synthetase 2, mitochondrial
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SUOX sulfite oxidase
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
UMOD uromodulin
XDH xanthine dehydrogenase