Nephrolithiasis Gene Set

Dataset DISEASES Experimental Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description Formation of stones in the KIDNEY. (Experimental Factor Ontology, EFO_0004253)
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Genes

160 genes associated with the disease Nephrolithiasis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
CLDN14 claudin 14 2.045
MORC3 MORC family CW-type zinc finger 3 2.045
CHAF1B chromatin assembly factor 1, subunit B (p60) 2.045
ALPL alkaline phosphatase, liver/bone/kidney 2.041
RAP1GAP RAP1 GTPase activating protein 2.041
NBPF3 neuroblastoma breakpoint family, member 3 2.041
RGS14 regulator of G-protein signaling 14 2.037
PRELID1 PRELI domain containing 1 2.037
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 2.037
MXD3 MAX dimerization protein 3 2.037
NSD1 nuclear receptor binding SET domain protein 1 2.037
F12 coagulation factor XII (Hageman factor) 2.037
PFN3 profilin 3 2.037
DBN1 drebrin 1 2.037
GRK6 G protein-coupled receptor kinase 6 2.037
LMAN2 lectin, mannose-binding 2 2.037
PRR7 proline rich 7 (synaptic) 2.037
RAB24 RAB24, member RAS oncogene family 2.037
DGKH diacylglycerol kinase, eta 2.03
AKAP11 A kinase (PRKA) anchor protein 11 2.023
HIBADH 3-hydroxyisobutyrate dehydrogenase 1.935
MINDY4 MINDY lysine 48 deubiquitinase 4 1.907
AQP1 aquaporin 1 (Colton blood group) 1.907
GHRHR growth hormone releasing hormone receptor 1.907
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 1.905
BCAS1 breast carcinoma amplified sequence 1 1.905
PFDN4 prefoldin subunit 4 1.905
TBX4 T-box 4 1.863
BCAS3 breast carcinoma amplified sequence 3 1.863
TBX2 T-box 2 1.863
RSPH14 radial spoke head 14 homolog (Chlamydomonas) 1.816
RAB36 RAB36, member RAS oncogene family 1.816
GNAZ guanine nucleotide binding protein (G protein), alpha z polypeptide 1.816
ATG16L1 autophagy related 16-like 1 (S. cerevisiae) 1.813
SAG S-antigen; retina and pineal gland (arrestin) 1.813
DGKD diacylglycerol kinase, delta 130kDa 1.813
PDILT protein disulfide isomerase-like, testis expressed 1.81
UMOD uromodulin 1.81
GP2 glycoprotein 2 (zymogen granule membrane) 1.81
ACSM2A acyl-CoA synthetase medium-chain family member 2A 1.81
ACSM5 acyl-CoA synthetase medium-chain family member 5 1.81
USP40 ubiquitin specific peptidase 40 1.756
SLC22A2 solute carrier family 22 (organic cation transporter), member 2 1.643
IGF2R insulin-like growth factor 2 receptor 1.643
SLC22A1 solute carrier family 22 (organic cation transporter), member 1 1.643
SLC22A3 solute carrier family 22 (organic cation transporter), member 3 1.643
KRTCAP3 keratinocyte associated protein 3 1.601
NRBP1 nuclear receptor binding protein 1 1.601
ZNF512 zinc finger protein 512 1.601
IFT172 intraflagellar transport 172 1.601
FNDC4 fibronectin type III domain containing 4 1.601
GCKR glucokinase (hexokinase 4) regulator 1.601
WDR72 WD repeat domain 72 1.597
CASR calcium-sensing receptor 1.577
CD86 CD86 molecule 1.577
KCNK5 potassium channel, two pore domain subfamily K, member 5 1.501
SAYSD1 SAYSVFN motif domain containing 1 1.501
ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 1.417
IP6K2 inositol hexakisphosphate kinase 2 1.417
PRKAR2A protein kinase, cAMP-dependent, regulatory, type II, alpha 1.417
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 1.417
UGT8 UDP glycosyltransferase 8 1.377
EPRS1 glutamyl-prolyl-tRNA synthetase 1 1.275
SLC30A10 solute carrier family 30, member 10 1.275
POU2AF1 POU class 2 associating factor 1 1.254
BTG4 B-cell translocation gene 4 1.254
PKD2 polycystic kidney disease 2 (autosomal dominant) 1.244
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) 1.244
CSTA cystatin A (stefin A) 1.12
DZIP1 DAZ interacting zinc finger protein 1 1.118
KCNK16 potassium channel, two pore domain subfamily K, member 16 1.118
CLDN10 claudin 10 1.118
KCNK17 potassium channel, two pore domain subfamily K, member 17 1.118
SLC28A1 solute carrier family 28 (concentrative nucleoside transporter), member 1 1.089
PDE8A phosphodiesterase 8A 1.089
TMEM174 transmembrane protein 174 1.052
TMEM171 transmembrane protein 171 1.052
FCHO2 FCH domain only 2 1.052
POLR1C polymerase (RNA) I polypeptide C, 30kDa 1.032
SCNN1B sodium channel, non voltage gated 1 beta subunit 1.023
COG7 component of oligomeric golgi complex 7 1.023
SCNN1G sodium channel, non voltage gated 1 gamma subunit 1.023
GGA2 golgi-associated, gamma adaptin ear containing, ARF binding protein 2 1.023
DUSP7 dual specificity phosphatase 7 1.017
POC1A POC1 centriolar protein A 1.017
RPL29 ribosomal protein L29 1.017
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 0.998
INMT indolethylamine N-methyltransferase 0.971
TMEM244 transmembrane protein 244 0.916
SAMD3 sterile alpha motif domain containing 3 0.916
C9ORF40 chromosome 9 open reading frame 40 0.916
TRPM6 transient receptor potential cation channel, subfamily M, member 6 0.916
L3MBTL3 l(3)mbt-like 3 (Drosophila) 0.916
SIX5 SIX homeobox 5 0.891
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 0.891
QPCTL glutaminyl-peptide cyclotransferase-like 0.891
DMPK dystrophia myotonica-protein kinase 0.891
EML2 echinoderm microtubule associated protein like 2 0.891
FBXO46 F-box protein 46 0.891
GPR4 G protein-coupled receptor 4 0.891
SNRPD2 small nuclear ribonucleoprotein D2 polypeptide 16.5kDa 0.891
GIPR gastric inhibitory polypeptide receptor 0.891
TBPL1 TBP-like 1 0.865
TCF21 transcription factor 21 0.865
SLC41A1 solute carrier family 41 (magnesium transporter), member 1 0.863
NUCKS1 nuclear casein kinase and cyclin-dependent kinase substrate 1 0.863
RAB29 RAB29, member RAS oncogene family 0.863
SLC45A3 solute carrier family 45, member 3 0.863
PM20D1 peptidase M20 domain containing 1 0.863
SIM1 single-minded family bHLH transcription factor 1 0.859
ASCC3 activating signal cointegrator 1 complex subunit 3 0.859
GRIK2 glutamate receptor, ionotropic, kainate 2 0.859
RNF141 ring finger protein 141 0.829
LIPJ lipase, family member J 0.829
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) 0.829
RNLS renalase, FAD-dependent amine oxidase 0.829
AMPD3 adenosine monophosphate deaminase 3 0.829
ZNF469 zinc finger protein 469 0.8
ZFPM1 zinc finger protein, FOG family member 1 0.8
ZC3H18 zinc finger CCCH-type containing 18 0.8
CHAF1A chromatin assembly factor 1, subunit A (p150) 0.764
TMIGD2 transmembrane and immunoglobulin domain containing 2 0.764
MPND MPN domain containing 0.764
YJU2 YJU2 splicing factor homolog 0.764
SHD Src homology 2 domain containing transforming protein D 0.764
SH3GL1 SH3-domain GRB2-like 1 0.764
STAP2 signal transducing adaptor family member 2 0.764
FSD1 fibronectin type III and SPRY domain containing 1 0.764
H2AC1 H2A clustered histone 1 0.742
SLC17A4 solute carrier family 17, member 4 0.742
H2BC1 H2B clustered histone 1 0.742
SLC17A1 solute carrier family 17 (organic anion transporter), member 1 0.742
SCGN secretagogin, EF-hand calcium binding protein 0.742
CARMIL1 capping protein regulator and myosin 1 linker 1 0.742
ANKRD6 ankyrin repeat domain 6 0.717
UBE2J1 ubiquitin-conjugating enzyme E2, J1 0.717
RRAGD Ras-related GTP binding D 0.717
GABRR2 gamma-aminobutyric acid (GABA) A receptor, rho 2 0.717
GLP1R glucagon-like peptide 1 receptor 0.715
TRPV5 transient receptor potential cation channel, subfamily V, member 5 0.653
SOFU1 sperm-oocyte fusion factor 1 0.653
KEL Kell blood group, metallo-endopeptidase 0.653
TRPV6 transient receptor potential cation channel, subfamily V, member 6 0.653
EPHB6 EPH receptor B6 0.653
ADGRE5 adhesion G protein-coupled receptor E5 0.62
DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1 0.62
GIPC1 GIPC PDZ domain containing family, member 1 0.62
NDUFB7 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa 0.62
PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa 0.62
TECR trans-2,3-enoyl-CoA reductase 0.62
PKN1 protein kinase N1 0.62
DDX39A DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A 0.62
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 0.582
TFAP2D transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 0.582
GPN1 GPN-loop GTPase 1 0.531
CCDC121 coiled-coil domain containing 121 0.531
THADA thyroid adenoma associated 0.521
ZFP36L2 ZFP36 ring finger protein-like 2 0.521
FBP1 fructose-1,6-bisphosphatase 1 0.51
AOPEP aminopeptidase O (putative) 0.51