Cystinuria Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. (Human Disease Ontology, DOID_9266)
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Genes

145 genes co-occuring with the disease Cystinuria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 4.0
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 4.0
PREPL prolyl endopeptidase-like 3.307
SLC7A13 solute carrier family 7 (anionic amino acid transporter), member 13 2.815
SLC3A2 solute carrier family 3 (amino acid transporter heavy chain), member 2 2.632
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 2.546
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B 2.515
AGXT alanine-glyoxylate aminotransferase 2.388
CAMKMT calmodulin-lysine N-methyltransferase 2.342
APRT adenine phosphoribosyltransferase 2.315
SLC7A10 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 2.28
HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 2.272
GRHPR glyoxylate reductase/hydroxypyruvate reductase 2.263
CLCN5 chloride channel, voltage-sensitive 5 2.151
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 2.08
SLC7A6 solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 2.017
SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 1.984
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19 1.964
P3H3 prolyl 3-hydroxylase 3 1.955
CLDN16 claudin 16 1.93
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 1.916
UMOD uromodulin 1.905
SLC7A14 solute carrier family 7, member 14 1.882
SLC7A5 solute carrier family 7 (amino acid transporter light chain, L system), member 5 1.872
SLC26A1 solute carrier family 26 (anion exchanger), member 1 1.819
CEP89 centrosomal protein 89kDa 1.766
CTNS cystinosin, lysosomal cystine transporter 1.747
OCRL oculocerebrorenal syndrome of Lowe 1.729
CASR calcium-sensing receptor 1.708
SHROOM3 shroom family member 3 1.685
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 1.667
SLC15A1 solute carrier family 15 (oligopeptide transporter), member 1 1.664
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3 1.655
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 1.653
SLC7A8 solute carrier family 7 (amino acid transporter light chain, L system), member 8 1.639
PREP prolyl endopeptidase 1.634
MOCOS molybdenum cofactor sulfurase 1.629
LRP2 low density lipoprotein receptor-related protein 2 1.616
CUBN cubilin (intrinsic factor-cobalamin receptor) 1.584
CLDN19 claudin 19 1.57
TMEM60 transmembrane protein 60 1.566
CLDN14 claudin 14 1.556
CLTRN collectrin, amino acid transport regulator 1.53
ZNF446 zinc finger protein 446 1.522
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12 1.517
PTH parathyroid hormone 1.514
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) 1.499
SLC38A6 solute carrier family 38, member 6 1.496
ADSL adenylosuccinate lyase 1.49
SLC13A2 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 1.479
SLC6A14 solute carrier family 6 (amino acid transporter), member 14 1.47
METTL2B methyltransferase like 2B 1.457
NAT8 N-acetyltransferase 8 (GCN5-related, putative) 1.448
TRPV5 transient receptor potential cation channel, subfamily V, member 5 1.421
SPP1 secreted phosphoprotein 1 1.421
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 1.388
TSPAN16 tetraspanin 16 1.379
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 1.36
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 1.358
PHC3 polyhomeotic homolog 3 (Drosophila) 1.349
SBSPON somatomedin B and thrombospondin, type 1 domain containing 1.347
AMBP alpha-1-microglobulin/bikunin precursor 1.331
HGD homogentisate 1,2-dioxygenase 1.321
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3 1.32
PRCD progressive rod-cone degeneration 1.319
SLC28A1 solute carrier family 28 (concentrative nucleoside transporter), member 1 1.313
SLC26A6 solute carrier family 26 (anion exchanger), member 6 1.312
WDR37 WD repeat domain 37 1.302
ALB albumin 1.3
PLAAT2 phospholipase A and acyltransferase 2 1.297
TXNDC17 thioredoxin domain containing 17 1.296
SLC17A3 solute carrier family 17 (organic anion transporter), member 3 1.295
SLC17A1 solute carrier family 17 (organic anion transporter), member 1 1.294
ATP7B ATPase, Cu++ transporting, beta polypeptide 1.289
SLC38A8 solute carrier family 38, member 8 1.283
SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9 1.28
SLC1A5 solute carrier family 1 (neutral amino acid transporter), member 5 1.274
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 1.257
SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 1.249
IQCE IQ motif containing E 1.238
CORO2B coronin, actin binding protein, 2B 1.231
DNAH8 dynein, axonemal, heavy chain 8 1.219
WDR72 WD repeat domain 72 1.218
GPR179 G protein-coupled receptor 179 1.214
ANO8 anoctamin 8 1.213
CHKB choline kinase beta 1.213
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1 1.213
SLC16A9 solute carrier family 16, member 9 1.202
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 1.202
OR5H14 olfactory receptor, family 5, subfamily H, member 14 1.201
CLCNKB chloride channel, voltage-sensitive Kb 1.2
QDPR quinoid dihydropteridine reductase 1.189
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 1.185
SACK1G scaffolding CK1 anchoring protein G 1.185
COL4A5 collagen, type IV, alpha 5 1.184
SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4 1.182
BCAS3 breast carcinoma amplified sequence 3 1.179
XDH xanthine dehydrogenase 1.178
HPRT1 hypoxanthine phosphoribosyltransferase 1 1.178
MEGF6 multiple EGF-like-domains 6 1.177
AHCY adenosylhomocysteinase 1.176
SLC22A2 solute carrier family 22 (organic cation transporter), member 2 1.161
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 1.16
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) 1.16
MTFMT mitochondrial methionyl-tRNA formyltransferase 1.159
ACE angiotensin I converting enzyme 1.158
SLC38A7 solute carrier family 38, member 7 1.146
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) 1.135
CLPS colipase, pancreatic 1.126
SLC6A15 solute carrier family 6 (neutral amino acid transporter), member 15 1.123
SLC7A1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 1.122
OAT ornithine aminotransferase 1.12
MYH9 myosin, heavy chain 9, non-muscle 1.117
SLC27A2 solute carrier family 27 (fatty acid transporter), member 2 1.111
AQP1 aquaporin 1 (Colton blood group) 1.101
GPRC5C G protein-coupled receptor, class C, group 5, member C 1.096
ALDH16A1 aldehyde dehydrogenase 16 family, member A1 1.095
AOX1 aldehyde oxidase 1 1.094
AVP arginine vasopressin 1.088
CST3 cystatin C 1.081
COL4A4 collagen, type IV, alpha 4 1.08
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 1.079
NUTM2F NUT family member 2F 1.074
AGXT2 alanine--glyoxylate aminotransferase 2 1.071
LAP3 leucine aminopeptidase 3 1.065
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 1.059
ASS1 argininosuccinate synthase 1 1.051
TEX30 testis expressed 30 1.049
APOL1 apolipoprotein L, 1 1.047
FAM20A family with sequence similarity 20, member A 1.047
APC2 adenomatosis polyposis coli 2 1.037
DGCR2 DiGeorge syndrome critical region gene 2 1.034
SLC14A2 solute carrier family 14 (urea transporter), member 2 1.029
ITGA10 integrin, alpha 10 1.029
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 1.027
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2 1.02
DOK7 docking protein 7 1.019
ZNF324 zinc finger protein 324 1.019
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1 1.018
ETFB electron-transfer-flavoprotein, beta polypeptide 1.015
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1.014
TYR tyrosinase 1.009
MOCS2 molybdenum cofactor synthesis 2 1.005
GCDH glutaryl-CoA dehydrogenase 1.004
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria 1.001