abnormality of renal resorption Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of renal absorption. (Human Phenotype Ontology, HP_0011038)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011038
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Genes

18 genes associated with the abnormality of renal resorption phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CEP290 centrosomal protein 290kDa
CLCNKB chloride channel, voltage-sensitive Kb
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)
FAM20A family with sequence similarity 20, member A
FASTKD2 FAST kinase domains 2
FGF23 fibroblast growth factor 23
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
HBB hemoglobin, beta
KL klotho
OCRL oculocerebrorenal syndrome of Lowe
PET100 PET100 homolog (S. cerevisiae)
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I