dilated distal 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 between the ascending portion of the loop of Henle and the collecting duct system in the kidney cortex (Mammalian Phenotype Ontology, MP_0009051)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009051
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6 gene mutations causing the dilated distal convoluted tubules phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BCL2 B-cell CLL/lymphoma 2
FGFR2 fibroblast growth factor receptor 2
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
NPHP3 nephronophthisis 3 (adolescent)
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
WWTR1 WW domain containing transcription regulator 1