cystathioninuria Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An elevated urinary concentration of cystathionine. (Human Phenotype Ontology, HP_0003153)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003153
Similar Terms
Downloads & Tools

Genes

3 genes associated with the cystathioninuria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CTH cystathionine gamma-lyase
LMBRD1 LMBR1 domain containing 1
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria