abnormal kidney collecting duct morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the kidney ducts lined by simple cuboidal epithelium that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance; each cortical collecting duct joints with other ducts to make a medullary connecting duct, which eventually drains into a papillary duct, emptying urine into the renal pelvis for drainage into the ureter (Mammalian Phenotype Ontology, MP_0004754)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004754
Similar Terms
Downloads & Tools


41 gene mutations causing the abnormal kidney collecting duct morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
APRT adenine phosphoribosyltransferase
AQP2 aquaporin 2 (collecting duct)
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
CD63 CD63 molecule
DCHS1 dachsous cadherin-related 1
DLG1 discs, large homolog 1 (Drosophila)
DLG5 discs, large homolog 5 (Drosophila)
EGFR epidermal growth factor receptor
FAT4 FAT atypical cadherin 4
FGF7 fibroblast growth factor 7
FOXD1 forkhead box D1
FOXI1 forkhead box I1
GPC3 glypican 3
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
ILK integrin-linked kinase
INVS inversin
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
KL klotho
MKS1 Meckel syndrome, type 1
MMP17 matrix metallopeptidase 17 (membrane-inserted)
NEK8 NIMA-related kinase 8
NPHP3 nephronophthisis 3 (adolescent)
PCCA propionyl CoA carboxylase, alpha polypeptide
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RET ret proto-oncogene
RHCG Rh family, C glycoprotein
SCTR secretin receptor
STAG1 stromal antigen 1
TFCP2L1 transcription factor CP2-like 1
UMOD uromodulin
UOX urate oxidase, pseudogene
VAMP8 vesicle-associated membrane protein 8
WDPCP WD repeat containing planar cell polarity effector
WNT9B wingless-type MMTV integration site family, member 9B