nephrolithiasis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Formation of stones in the KIDNEY. (Experimental Factor Ontology, EFO_0004253)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000787
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Genes

66 genes associated with the nephrolithiasis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACVRL1 activin A receptor type II-like 1
AGXT alanine-glyoxylate aminotransferase
AIP aryl hydrocarbon receptor interacting protein
ANTXR1 anthrax toxin receptor 1
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
APRT adenine phosphoribosyltransferase
ARMC5 armadillo repeat containing 5
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
ATP7B ATPase, Cu++ transporting, beta polypeptide
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CAMKMT calmodulin-lysine N-methyltransferase
CASR calcium-sensing receptor
CDC73 cell division cycle 73
CLCN5 chloride channel, voltage-sensitive 5
CLDN16 claudin 16
CLDN19 claudin 19
CLIP2 CAP-GLY domain containing linker protein 2
CTNS cystinosin, lysosomal cystine transporter
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
ELN elastin
ENG endoglin
FBN1 fibrillin 1
G6PC glucose-6-phosphatase, catalytic subunit
GDF2 growth differentiation factor 2
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GRHPR glyoxylate reductase/hydroxypyruvate reductase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HGD homogentisate 1,2-dioxygenase
HNF1B HNF1 homeobox B
HOGA1 4-hydroxy-2-oxoglutarate aldolase 1
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSPG2 heparan sulfate proteoglycan 2
KRT17 keratin 17, type I
LIMK1 LIM domain kinase 1
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
OCRL oculocerebrorenal syndrome of Lowe
PAX2 paired box 2
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLCD1 phospholipase C, delta 1
PLG plasminogen
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PREPL prolyl endopeptidase-like
PRPS1 phosphoribosyl pyrophosphate synthetase 1
RFC2 replication factor C (activator 1) 2, 40kDa
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SI sucrase-isomaltase (alpha-glucosidase)
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC36A2 solute carrier family 36 (proton/amino acid symporter), member 2
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SMAD4 SMAD family member 4
TBL2 transducin (beta)-like 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
XDH xanthine dehydrogenase