nephrocalcinosis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003197
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Genes

16 gene mutations causing the nephrocalcinosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
AGXT alanine-glyoxylate aminotransferase
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
CASR calcium-sensing receptor
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CLCN5 chloride channel, voltage-sensitive 5
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
GRHPR glyoxylate reductase/hydroxypyruvate reductase
INVS inversin
KL klotho
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SPP1 secreted phosphoprotein 1
UMOD uromodulin