abnormality of nucleobase metabolism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of a nucleobase metabolic process. (Human Phenotype Ontology, HP_0010932)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010932
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Genes

35 genes associated with the abnormality of nucleobase 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
ARG1 arginase 1
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
CLDN16 claudin 16
DPYD dihydropyrimidine dehydrogenase
DPYS dihydropyrimidinase
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
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
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SUOX sulfite oxidase
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
UMOD uromodulin
UMPS uridine monophosphate synthetase
XDH xanthine dehydrogenase