renal fanconi syndrome Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. (Human Phenotype Ontology, HP_0001994)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001994
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Genes

11 genes associated with the renal fanconi syndrome phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
COA5 cytochrome c oxidase assembly factor 5
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX20 COX20 cytochrome c oxidase assembly factor
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CTNS cystinosin, lysosomal cystine transporter
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FASTKD2 FAST kinase domains 2
OCRL oculocerebrorenal syndrome of Lowe
PET100 PET100 homolog (S. cerevisiae)
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
Funding