abnormal kidney medulla morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the inner portion of the kidney consisting of the renal pyramids (Mammalian Phenotype Ontology, MP_0003014)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003014
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Genes

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

Symbol Name
ACE angiotensin I converting enzyme
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
APRT adenine phosphoribosyltransferase
AQP2 aquaporin 2 (collecting duct)
BCL2 B-cell CLL/lymphoma 2
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
ESRRG estrogen-related receptor gamma
FGF10 fibroblast growth factor 10
FGF7 fibroblast growth factor 7
FSTL1 follistatin-like 1
GLIS2 GLIS family zinc finger 2
GPC3 glypican 3
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein
INVS inversin
KL klotho
LEPR leptin receptor
LGMN legumain
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP17 matrix metallopeptidase 17 (membrane-inserted)
NEK8 NIMA-related kinase 8
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
PAX2 paired box 2
PBX1 pre-B-cell leukemia homeobox 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
REN renin
RET ret proto-oncogene
RHCG Rh family, C glycoprotein
SCTR secretin receptor
SDC4 syndecan 4
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
TCF21 transcription factor 21
UMOD uromodulin
VAMP8 vesicle-associated membrane protein 8