Nephrolithiasis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Formation of stones in the KIDNEY. (Experimental Factor Ontology, EFO_0004253)
External Link https://www.disgenet.org/browser/0/1/0/C0392525
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Genes

248 genes associated with the disease Nephrolithiasis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ACKR3 atypical chemokine receptor 3
ACP3 acid phosphatase 3
ACVRL1 activin A receptor type II-like 1
ADAMTSL1 ADAMTS-like 1
ADCY10 adenylate cyclase 10 (soluble)
ADI1 acireductone dioxygenase 1
ADRA1A adrenoceptor alpha 1A
ADRA2B adrenoceptor alpha 2B
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGXT alanine-glyoxylate aminotransferase
AHSG alpha-2-HS-glycoprotein
AIP aryl hydrocarbon receptor interacting protein
ALB albumin
ALPL alkaline phosphatase, liver/bone/kidney
AMBP alpha-1-microglobulin/bikunin precursor
ANTXR1 anthrax toxin receptor 1
APPBP2 amyloid beta precursor protein (cytoplasmic tail) binding protein 2
APRT adenine phosphoribosyltransferase
AQP1 aquaporin 1 (Colton blood group)
AR androgen receptor
ARMC5 armadillo repeat containing 5
ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
ATP7B ATPase, Cu++ transporting, beta polypeptide
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BEST1 bestrophin 1
BGLAP bone gamma-carboxyglutamate (gla) protein
BRCA2 breast cancer 2, early onset
BRS3 bombesin-like receptor 3
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTNL2 butyrophilin-like 2
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
CALCR calcitonin receptor
CAMKMT calmodulin-lysine N-methyltransferase
CAPN1 calpain 1, (mu/I) large subunit
CARMIL1 capping protein regulator and myosin 1 linker 1
CASR calcium-sensing receptor
CCL2 chemokine (C-C motif) ligand 2
CD14 CD14 molecule
CD44 CD44 molecule (Indian blood group)
CD9 CD9 molecule
CDC73 cell division cycle 73
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDH23 cadherin-related 23
CDKL5 cyclin-dependent kinase-like 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHD1 chromodomain helicase DNA binding protein 1
CLC Charcot-Leyden crystal galectin
CLCN5 chloride channel, voltage-sensitive 5
CLCN7 chloride channel, voltage-sensitive 7
CLDN14 claudin 14
CLDN16 claudin 16
CLDN19 claudin 19
CLIP2 CAP-GLY domain containing linker protein 2
CRYZ crystallin, zeta (quinone reductase)
CTH cystathionine gamma-lyase
CTNS cystinosin, lysosomal cystine transporter
CXCR6 chemokine (C-X-C motif) receptor 6
CYFIP2 cytoplasmic FMR1 interacting protein 2
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
DEFB1 defensin, beta 1
DGKD diacylglycerol kinase, delta 130kDa
DGKH diacylglycerol kinase, eta
DMD dystrophin
EDNRA endothelin receptor type A
EEF1A1 eukaryotic translation elongation factor 1 alpha 1
ELN elastin
ENG endoglin
ENO1 enolase 1, (alpha)
F2 coagulation factor II (thrombin)
FAM20A family with sequence similarity 20, member A
FBN1 fibrillin 1
FGF23 fibroblast growth factor 23
FLNA filamin A, alpha
FN1 fibronectin 1
FOXG1 forkhead box G1
FOXO1 forkhead box O1
G6PC glucose-6-phosphatase, catalytic subunit
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GDF2 growth differentiation factor 2
GGCX gamma-glutamyl carboxylase
GLI2 GLI family zinc finger 2
GNAS GNAS complex locus
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GPR42 G protein-coupled receptor 42 (gene/pseudogene)
GPX1 glutathione peroxidase 1
GRHPR glyoxylate reductase/hydroxypyruvate reductase
GRPR gastrin-releasing peptide receptor
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HAO1 hydroxyacid oxidase (glycolate oxidase) 1
HGD homogentisate 1,2-dioxygenase
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HIPK2 homeodomain interacting protein kinase 2
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMGB1 high mobility group box 1
HNF1B HNF1 homeobox B
HOGA1 4-hydroxy-2-oxoglutarate aldolase 1
HPGDS hematopoietic prostaglandin D synthase
HPR haptoglobin-related protein
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA4 heat shock 70kDa protein 4
HSPG2 heparan sulfate proteoglycan 2
IGF2 insulin-like growth factor 2
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL6 interleukin 6
INSM1 insulinoma-associated 1
ITPKC inositol-trisphosphate 3-kinase C
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KL klotho
KLK3 kallikrein-related peptidase 3
KRT17 keratin 17, type I
LAT2 linker for activation of T cells family, member 2
LCN2 lipocalin 2
LIMK1 LIM domain kinase 1
LPAR2 lysophosphatidic acid receptor 2
LRP2 low density lipoprotein receptor-related protein 2
LRPAP1 low density lipoprotein receptor-related protein associated protein 1
MAPK8 mitogen-activated protein kinase 8
MARCH8 membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase
MDM4 MDM4, p53 regulator
MECP2 methyl CpG binding protein 2
MED25 mediator complex subunit 25
MGME1 mitochondrial genome maintenance exonuclease 1
MGP matrix Gla protein
MLXIP MLX interacting protein
MMP9 matrix metallopeptidase 9
MMRN1 multimerin 1
MRPS30 mitochondrial ribosomal protein S30
MSH3 mutS homolog 3
MTNR1A melatonin receptor 1A
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MTPAP mitochondrial poly(A) polymerase
MUC4 mucin 4, cell surface associated
MYLIP myosin regulatory light chain interacting protein
NCF1 neutrophil cytosolic factor 1
NFE2L2 nuclear factor, erythroid 2-like 2
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOS3 nitric oxide synthase 3 (endothelial cell)
NOX4 NADPH oxidase 4
NRK Nik related kinase
NTNG1 netrin G1
OCRL oculocerebrorenal syndrome of Lowe
OPLAH 5-oxoprolinase (ATP-hydrolysing)
ORAI1 ORAI calcium release-activated calcium modulator 1
PAPOLA poly(A) polymerase alpha
PAQR6 progestin and adipoQ receptor family member VI
PBX1 pre-B-cell leukemia homeobox 1
PDAP1 PDGFA associated protein 1
PDE1A phosphodiesterase 1A, calmodulin-dependent
PFN3 profilin 3
PHEX phosphate regulating endopeptidase homolog, X-linked
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLCD1 phospholipase C, delta 1
PLG plasminogen
PLIN5 perilipin 5
PODXL podocalyxin-like
POU2AF1 POU class 2 associating factor 1
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PREPL prolyl endopeptidase-like
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PRRT2 proline-rich transmembrane protein 2
PTH parathyroid hormone
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5
REG3A regenerating islet-derived 3 alpha
RFC2 replication factor C (activator 1) 2, 40kDa
RGS14 regulator of G-protein signaling 14
SCN10A sodium channel, voltage gated, type X alpha subunit
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SHROOM3 shroom family member 3
SI sucrase-isomaltase (alpha-glucosidase)
SIRT1 sirtuin 1
SIRT3 sirtuin 3
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC13A2 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12
SLC26A1 solute carrier family 26 (anion exchanger), member 1
SLC26A6 solute carrier family 26 (anion exchanger), member 6
SLC2A6 solute carrier family 2 (facilitated glucose transporter), member 6
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC36A1 solute carrier family 36 (proton/amino acid symporter), member 1
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
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
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
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SMAD4 SMAD family member 4
SPP1 secreted phosphoprotein 1
SSTR4 somatostatin receptor 4
STXBP1 syntaxin binding protein 1
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TBL2 transducin (beta)-like 2
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TFF2 trefoil factor 2
TFF3 trefoil factor 3 (intestinal)
TGFB1 transforming growth factor, beta 1
TLR3 toll-like receptor 3
TNF tumor necrosis factor
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TPSAB1 tryptase alpha/beta 1
TPSB2 tryptase beta 2 (gene/pseudogene)
TRPV5 transient receptor potential cation channel, subfamily V, member 5
TUSC2 tumor suppressor candidate 2
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UMOD uromodulin
USP8 ubiquitin specific peptidase 8
VAX2 ventral anterior homeobox 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VIM vimentin
WDR72 WD repeat domain 72
XDH xanthine dehydrogenase
XPR1 xenotropic and polytropic retrovirus receptor 1