cystinosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
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Genes

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

Symbol Name Standardized Value
CTNS cystinosin, lysosomal cystine transporter 3.54673
VNN2 vanin 2 1.83727
SHPK sedoheptulokinase 1.70042
VNN1 vanin 1 1.67548
PQLC2 PQ loop repeat containing 2 1.53613
CUBN cubilin (intrinsic factor-cobalamin receptor) 1.2717
LCAT lecithin-cholesterol acyltransferase 1.16735
IL36R interleukin 36 receptor 1.13247
GTF3C1 general transcription factor IIIC, polypeptide 1, alpha 220kDa 1.04083
LRP2 low density lipoprotein receptor-related protein 2 1.02988
DAZAP1 DAZ associated protein 1 0.997814
GSX1 GS homeobox 1 0.977585
LAMP2 lysosomal-associated membrane protein 2 0.935385
GGT6 gamma-glutamyltransferase 6 0.879014
GGTLC1 gamma-glutamyltransferase light chain 1 0.86714
UBIAD1 UbiA prenyltransferase domain containing 1 0.819616
GGT5 gamma-glutamyltransferase 5 0.816745
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 0.793771
GGT7 gamma-glutamyltransferase 7 0.787213
KDELR1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 0.774523
FN3K fructosamine 3 kinase 0.761454
OPLAH 5-oxoprolinase (ATP-hydrolysing) 0.758601
AVPR2 arginine vasopressin receptor 2 0.720865
CLCN5 chloride channel, voltage-sensitive 5 0.699919
YBX3 Y box binding protein 3 0.677903
AQP2 aquaporin 2 (collecting duct) 0.658818
APRT adenine phosphoribosyltransferase 0.63042
TARBP2 TAR (HIV-1) RNA binding protein 2 0.623359
TRPV3 transient receptor potential cation channel, subfamily V, member 3 0.609666
DNAH8 dynein, axonemal, heavy chain 8 0.594843
SLC4A11 solute carrier family 4, sodium borate transporter, member 11 0.592506
GAST gastrin 0.586665
KRT12 keratin 12, type I 0.581606
TRPV1 transient receptor potential cation channel, subfamily V, member 1 0.58005
ESPN espin 0.563723
MPDU1 mannose-P-dolichol utilization defect 1 0.562558
AGXT alanine-glyoxylate aminotransferase 0.545481
TACSTD2 tumor-associated calcium signal transducer 2 0.536957
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 0.532314
PKLR pyruvate kinase, liver and RBC 0.532314
IL18R1 interleukin 18 receptor 1 0.531541
UMOD uromodulin 0.526904
FNDC3A fibronectin type III domain containing 3A 0.52536
PYCARD PYD and CARD domain containing 0.520346
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 0.51611
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 0.495411
KRT3 keratin 3, type II 0.46655
PKM pyruvate kinase, muscle 0.465794
LAMP1 lysosomal-associated membrane protein 1 0.460883
ITK IL2-inducible T-cell kinase 0.452962
CASP4 caspase 4, apoptosis-related cysteine peptidase 0.425514
PSMA7 proteasome (prosome, macropain) subunit, alpha type, 7 0.408666
TBK1 TANK-binding kinase 1 0.407919
RAB27A RAB27A, member RAS oncogene family 0.397471
CTH cystathionine gamma-lyase 0.379256
COL1A1 collagen, type I, alpha 1 0.353027
RPTOR regulatory associated protein of MTOR, complex 1 0.348981
TSHB thyroid stimulating hormone, beta 0.317909
CARS cysteinyl-tRNA synthetase 0.303781
GALNS galactosamine (N-acetyl)-6-sulfatase 0.292616
ATP11A ATPase, class VI, type 11A 0.291539
ASPA aspartoacylase 0.290462
GPR182 G protein-coupled receptor 182 0.284013
GSS glutathione synthetase 0.282225
MCOLN1 mucolipin 1 0.271174
GUSB glucuronidase, beta 0.26514
GGT1 gamma-glutamyltransferase 1 0.26514
IL1R1 interleukin 1 receptor, type I 0.264785
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 0.254536
REN renin 0.246799
AMBP alpha-1-microglobulin/bikunin precursor 0.237706
IGF2R insulin-like growth factor 2 receptor 0.23353
CTSD cathepsin D 0.231448
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 0.230755
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 0.228679
HSF4 heat shock transcription factor 4 0.226952
IDUA iduronidase, alpha-L- 0.218374
GALT galactose-1-phosphate uridylyltransferase 0.212945
CLN3 ceroid-lipofuscinosis, neuronal 3 0.212945
CHIT1 chitinase 1 (chitotriosidase) 0.210589
SQSTM1 sequestosome 1 0.20658
ALB albumin 0.205916
CST3 cystatin C 0.205916
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide 0.201635
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide 0.201308
ITGAE integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 0.198709
COL4A5 collagen, type IV, alpha 5 0.194548
CASP7 caspase 7, apoptosis-related cysteine peptidase 0.179239
HSP90B1 heat shock protein 90kDa beta (Grp94), member 1 0.178126
ANPEP alanyl (membrane) aminopeptidase 0.171785
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 0.167682
WFS1 Wolfram syndrome 1 (wolframin) 0.160203
RBP4 retinol binding protein 4, plasma 0.160021