abnormal distal convoluted tubule morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the convoluted portion of the duct system of the nephron between the ascending portion of the loop of Henle and the collecting duct system in the kidney cortex; it is partly responsible for the regulation of potassium, sodium, calcium, and pH through the endocrine system (Mammalian Phenotype Ontology, MP_0004757)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004757
Similar Terms
Downloads & Tools

Genes

15 gene mutations causing the abnormal distal convoluted tubule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
BCL2 B-cell CLL/lymphoma 2
BMP7 bone morphogenetic protein 7
FGFR2 fibroblast growth factor receptor 2
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
NPHP3 nephronophthisis 3 (adolescent)
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NR3C2 nuclear receptor subfamily 3, group C, member 2
POU3F3 POU class 3 homeobox 3
PSAP prosaposin
REN renin
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
TFCP2L1 transcription factor CP2-like 1
WWTR1 WW domain containing transcription regulator 1