dilated proximal convoluted tubules Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description stretched or widened aperture of the luminal space of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle (Mammalian Phenotype Ontology, MP_0009050)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009050
Similar Terms
Downloads & Tools


19 gene mutations causing the dilated proximal convoluted tubules phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALMS1 Alstrom syndrome protein 1
BCL2 B-cell CLL/lymphoma 2
CD151 CD151 molecule (Raph blood group)
CDH4 cadherin 4, type 1, R-cadherin (retinal)
FGFR2 fibroblast growth factor receptor 2
GADD45A growth arrest and DNA-damage-inducible, alpha
IFT88 intraflagellar transport 88
INVS inversin
KIRREL kin of IRRE like (Drosophila)
NEK8 NIMA-related kinase 8
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TNS1 tensin 1
VEGFA vascular endothelial growth factor A
WWTR1 WW domain containing transcription regulator 1