Dent Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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)
External Link https://www.disgenet.org/browser/0/1/0/C0878681
Similar Terms
Downloads & Tools

Genes

26 genes associated with the disease Dent Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ALB albumin
AR androgen receptor
BSND barttin CLCNK-type chloride channel accessory beta subunit
CLC Charcot-Leyden crystal galectin
CLCN4 chloride channel, voltage-sensitive 4
CLCN5 chloride channel, voltage-sensitive 5
CLDN16 claudin 16
CTSD cathepsin D
CUBN cubilin (intrinsic factor-cobalamin receptor)
DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)
EXT2 exostosin glycosyltransferase 2
FAM109A family with sequence similarity 109, member A
GH1 growth hormone 1
INPP5B inositol polyphosphate-5-phosphatase, 75kDa
LRP2 low density lipoprotein receptor-related protein 2
NAGLU N-acetylglucosaminidase, alpha
NBAS neuroblastoma amplified sequence
OCRL oculocerebrorenal syndrome of Lowe
PHEX phosphate regulating endopeptidase homolog, X-linked
RBP4 retinol binding protein 4, plasma
SCN7A sodium channel, voltage gated, type VII alpha subunit
SHROOM4 shroom family member 4
SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3
SYP synaptophysin
TFE3 transcription factor binding to IGHM enhancer 3
TMEM27 transmembrane protein 27