Dent disease 2 Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. (Human Disease Ontology, DOID_0050699)
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1 genes associated with the Dent disease 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
OCRL oculocerebrorenal syndrome of Lowe