Cystinosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Similar Terms
Downloads & Tools

Genes

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

Symbol Name Standardized Value
CTNS cystinosin, lysosomal cystine transporter 4.0
SLC66A1 solute carrier family 66 member 1 3.1
LRP2 low density lipoprotein receptor-related protein 2 2.472
CLCN5 chloride channel, voltage-sensitive 5 2.459
CUBN cubilin (intrinsic factor-cobalamin receptor) 2.375
SHPK sedoheptulokinase 2.348
OCRL oculocerebrorenal syndrome of Lowe 2.266
CLN3 ceroid-lipofuscinosis, neuronal 3 2.143
TFEB transcription factor EB 2.092
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 2.091
MFSD12 major facilitator superfamily domain containing 12 2.07
YBX3 Y box binding protein 3 2.041
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 1.989
ESPN espin 1.974
MCOLN1 mucolipin 1 1.947
VNN1 vanin 1 1.946
VNN2 vanin 2 1.926
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3 1.917
GLA galactosidase, alpha 1.913
SQSTM1 sequestosome 1 1.894
RAB11A RAB11A, member RAS oncogene family 1.87
FGF23 fibroblast growth factor 23 1.864
NPC1 Niemann-Pick disease, type C1 1.864
LAMP2 lysosomal-associated membrane protein 2 1.859
LAMP1 lysosomal-associated membrane protein 1 1.848
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1.842
AQP2 aquaporin 2 (collecting duct) 1.824
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2 1.815
IDUA iduronidase, alpha-L- 1.812
CHIT1 chitinase 1 (chitotriosidase) 1.757
SGSH N-sulfoglucosamine sulfohydrolase 1.744
ALB albumin 1.724
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) 1.713
PPT1 palmitoyl-protein thioesterase 1 1.706
PTH parathyroid hormone 1.698
UMOD uromodulin 1.691
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 1.683
NPC2 Niemann-Pick disease, type C2 1.681
DNAH8 dynein, axonemal, heavy chain 8 1.667
DYNC1LI2 dynein, cytoplasmic 1, light intermediate chain 2 1.665
ADO 2-aminoethanethiol (cysteamine) dioxygenase 1.662
MTOR mechanistic target of rapamycin (serine/threonine kinase) 1.653
PSMA7 proteasome (prosome, macropain) subunit, alpha type, 7 1.646
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 1.645
COL4A5 collagen, type IV, alpha 5 1.632
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 1.62
BECN1 beclin 1, autophagy related 1.594
UBIAD1 UbiA prenyltransferase domain containing 1 1.594
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1 1.591
IDS iduronate 2-sulfatase 1.585
RILP Rab interacting lysosomal protein 1.578
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 1.577
MANBA mannosidase, beta A, lysosomal 1.576
AMBP alpha-1-microglobulin/bikunin precursor 1.568
EMP1 epithelial membrane protein 1 1.559
TRPV1 transient receptor potential cation channel, subfamily V, member 1 1.556
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3 1.548
NLRP2 NLR family, pyrin domain containing 2 1.546
PHEX phosphate regulating endopeptidase homolog, X-linked 1.543
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 1.538
AVPR2 arginine vasopressin receptor 2 1.535
TPP1 tripeptidyl peptidase I 1.522
CST3 cystatin C 1.508
TMEM192 transmembrane protein 192 1.499
GC group-specific component (vitamin D binding protein) 1.496
HSPA8 heat shock 70kDa protein 8 1.49
RAB27A RAB27A, member RAS oncogene family 1.488
NAGLU N-acetylglucosaminidase, alpha 1.488
RRAGC Ras-related GTP binding C 1.486
APOL1 apolipoprotein L, 1 1.482
CD2AP CD2-associated protein 1.479
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 1.446
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 1.442
REN renin 1.438
PSAPL1 prosaposin-like 1 (gene/pseudogene) 1.435
CLCN7 chloride channel, voltage-sensitive 7 1.434
CTSD cathepsin D 1.42
CLCNKB chloride channel, voltage-sensitive Kb 1.416
PSAP prosaposin 1.412
RRAGA Ras-related GTP binding A 1.409
SLC66A2 solute carrier family 66 member 2 1.408
C2ORF80 chromosome 2 open reading frame 80 1.406
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 1.406
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 1.389
ARSA arylsulfatase A 1.387
CTSA cathepsin A 1.386
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 1.373
RPTOR regulatory associated protein of MTOR, complex 1 1.369
GNA12 guanine nucleotide binding protein (G protein) alpha 12 1.362
WDR72 WD repeat domain 72 1.358
MAN2B1 mannosidase, alpha, class 2B, member 1 1.357
CTSS cathepsin S 1.349
SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 1.342
ACE angiotensin I converting enzyme 1.34
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) 1.338
AMN amnion associated transmembrane protein 1.337
CCDC163 CCDC163 homolog 1.328
EVI5L ecotropic viral integration site 5-like 1.327
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) 1.325
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide 1.325
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide 1.324
GLB1 galactosidase, beta 1 1.322
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant 1.317
MFSD8 major facilitator superfamily domain containing 8 1.314
GGTLC2 gamma-glutamyltransferase light chain 2 1.307
ARL6 ADP-ribosylation factor-like 6 1.306
AGXT alanine-glyoxylate aminotransferase 1.305
NAGA N-acetylgalactosaminidase, alpha- 1.302
PODXL podocalyxin-like 1.299
SYNPO synaptopodin 1.296
SLC38A9 solute carrier family 38, member 9 1.295
LCAT lecithin-cholesterol acyltransferase 1.288
ACTN4 actinin, alpha 4 1.287
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 1.279
TJP1 tight junction protein 1 1.279
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 1.276
INS insulin 1.268
ETHE1 ethylmalonic encephalopathy 1 1.265
SUOX sulfite oxidase 1.265
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 1.263
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 1.26
AVP arginine vasopressin 1.258
HAVCR1 hepatitis A virus cellular receptor 1 1.249
GAST gastrin 1.248
CD63 CD63 molecule 1.243
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 1.241
FBXL4 F-box and leucine-rich repeat protein 4 1.239
CTSB cathepsin B 1.238
CTH cystathionine gamma-lyase 1.237
MPDU1 mannose-P-dolichol utilization defect 1 1.231
RRAGD Ras-related GTP binding D 1.228
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans) 1.225
IL1B interleukin 1, beta 1.218
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 1.218
FAM20C family with sequence similarity 20, member C 1.218
PAX2 paired box 2 1.217
FCHSD1 FCH and double SH3 domains 1 1.216
MAP1LC3B microtubule-associated protein 1 light chain 3 beta 1.214
TALDO1 transaldolase 1 1.21
KLHL3 kelch-like family member 3 1.21
B2M beta-2-microglobulin 1.206
DMP1 dentin matrix acidic phosphoprotein 1 1.205
MGAM maltase-glucoamylase 1.205
WDR41 WD repeat domain 41 1.201
COL4A4 collagen, type IV, alpha 4 1.199
GALC galactosylceramidase 1.198
SI sucrase-isomaltase (alpha-glucosidase) 1.194
TG thyroglobulin 1.193
GALNS galactosamine (N-acetyl)-6-sulfatase 1.193
IGF1 insulin-like growth factor 1 (somatomedin C) 1.187
AQP1 aquaporin 1 (Colton blood group) 1.186
TFE3 transcription factor binding to IGHM enhancer 3 1.186
KL klotho 1.183
FUCA1 fucosidase, alpha-L- 1, tissue 1.181
LIPA lipase A, lysosomal acid, cholesterol esterase 1.18
TMEM26 transmembrane protein 26 1.178
WT1 Wilms tumor 1 1.176
BSND barttin CLCNK-type chloride channel accessory beta subunit 1.17
ATG5 autophagy related 5 1.169
SCNN1G sodium channel, non voltage gated 1 gamma subunit 1.168
OSTM1 osteopetrosis associated transmembrane protein 1 1.168
MYO1E myosin IE 1.168
CBS cystathionine-beta-synthase 1.165
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2 1.162
EEA1 early endosome antigen 1 1.161
CDO1 cysteine dioxygenase type 1 1.154
ULK1 unc-51 like autophagy activating kinase 1 1.15
CLDN19 claudin 19 1.15
CASP3 caspase 3, apoptosis-related cysteine peptidase 1.148
EEF1A1 eukaryotic translation elongation factor 1 alpha 1 1.148
GRHPR glyoxylate reductase/hydroxypyruvate reductase 1.147
ATG12 autophagy related 12 1.145
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 1.143
CITED1 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 1.14
SLC36A1 solute carrier family 36 (proton/amino acid symporter), member 1 1.136
ATP7B ATPase, Cu++ transporting, beta polypeptide 1.135
FRMD3 FERM domain containing 3 1.128
OGA O-GlcNAcase 1.127
GAPDH glyceraldehyde-3-phosphate dehydrogenase 1.127
SMCR8 Smith-Magenis syndrome chromosome region, candidate 8 1.125
KRT3 keratin 3, type II 1.124
ATP6V0A1 ATPase, H+ transporting, lysosomal V0 subunit a1 1.123
TPCN2 two pore segment channel 2 1.122
GPX2 glutathione peroxidase 2 1.12
PIKFYVE phosphoinositide kinase, FYVE finger containing 1.118
LMX1B LIM homeobox transcription factor 1, beta 1.116
GPX5 glutathione peroxidase 5 1.116
GPX8 glutathione peroxidase 8 (putative) 1.115
GUSB glucuronidase, beta 1.114
GPX7 glutathione peroxidase 7 1.112
RAB5A RAB5A, member RAS oncogene family 1.111
RUMY2 RUMY family member 2 1.105
EEF1A2 eukaryotic translation elongation factor 1 alpha 2 1.101
ALDH3A2 aldehyde dehydrogenase 3 family, member A2 1.101
CASP4 caspase 4, apoptosis-related cysteine peptidase 1.099
GPX6 glutathione peroxidase 6 1.099
ATG7 autophagy related 7 1.098
TRPC6 transient receptor potential cation channel, subfamily C, member 6 1.096
GPX3 glutathione peroxidase 3 1.094
SCPEP1 serine carboxypeptidase 1 1.084
SUMF1 sulfatase modifying factor 1 1.077
VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae) 1.077
CASR calcium-sensing receptor 1.074
CTSF cathepsin F 1.068
NPHP1 nephronophthisis 1 (juvenile) 1.065
LCN2 lipocalin 2 1.064
ATG9B autophagy related 9B 1.059
CARS1 cysteinyl-tRNA synthetase 1 1.058
WNK4 WNK lysine deficient protein kinase 4 1.057
EGF epidermal growth factor 1.056
FXN frataxin 1.056
TGFBI transforming growth factor, beta-induced, 68kDa 1.055
MCC mutated in colorectal cancers 1.051
TGFB1 transforming growth factor, beta 1 1.049
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 1.047
HYAL1 hyaluronoglucosaminidase 1 1.044
HTT huntingtin 1.042
AP1G2 adaptor-related protein complex 1, gamma 2 subunit 1.042
CLDN16 claudin 16 1.041
RAB11FIP3 RAB11 family interacting protein 3 (class II) 1.038
STX7 syntaxin 7 1.034
TNF tumor necrosis factor 1.032
COQ8B coenzyme Q8B 1.03
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 1.029
ACP5 acid phosphatase 5, tartrate resistant 1.028
GH2 growth hormone 2 1.027
COQ6 coenzyme Q6 monooxygenase 1.026
IL6 interleukin 6 1.024
SLC4A11 solute carrier family 4, sodium borate transporter, member 11 1.023
HSPA4 heat shock 70kDa protein 4 1.023
SLC7A13 solute carrier family 7 (anionic amino acid transporter), member 13 1.022
FOXI1 forkhead box I1 1.021
TSG101 tumor susceptibility 101 1.021
RAB11FIP4 RAB11 family interacting protein 4 (class II) 1.017
ACTB actin, beta 1.017
UNC13D unc-13 homolog D (C. elegans) 1.017
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10 1.016
AP3S2 adaptor-related protein complex 3, sigma 2 subunit 1.015
IGF2R insulin-like growth factor 2 receptor 1.009
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 1.008
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12 1.008
RRAGB Ras-related GTP binding B 1.003
AP3B1 adaptor-related protein complex 3, beta 1 subunit 1.003
SYT7 synaptotagmin VII 1.002