abnormality of nitrogen compound homeostasis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of an abnormal concentration of nitrogen compounds. (Human Phenotype Ontology, HP_0004364)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004364
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Genes

57 genes associated with the abnormality of nitrogen compound homeostasis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ALDOB aldolase B, fructose-bisphosphate
ALMS1 Alstrom syndrome protein 1
ARG1 arginase 1
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
BTD biotinidase
CA5A carbonic anhydrase VA, mitochondrial
CLDN16 claudin 16
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CYC1 cytochrome c-1
FAN1 FANCD2/FANCI-associated nuclease 1
G6PC glucose-6-phosphatase, catalytic subunit
GLUD1 glutamate dehydrogenase 1
GLUL glutamate-ammonia ligase
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HNF1B HNF1 homeobox B
HPRT1 hypoxanthine phosphoribosyltransferase 1
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
INVS inversin
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MUC1 mucin 1, cell surface associated
MUT methylmalonyl CoA mutase
NAGS N-acetylglutamate synthase
OCRL oculocerebrorenal syndrome of Lowe
OTC ornithine carbamoyltransferase
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PFKM phosphofructokinase, muscle
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
SERAC1 serine active site containing 1
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
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
TMEM70 transmembrane protein 70
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TUFM Tu translation elongation factor, mitochondrial
UMOD uromodulin
UQCRC2 ubiquinol-cytochrome c reductase core protein II
WDR19 WD repeat domain 19