mucopolysaccharidosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A lysosomal storage disease that involves he accumulation of glycosaminoglycans in the tissues and their excretion in the urine. (Human Disease Ontology, DOID_12798)
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Genes

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

Symbol Name Standardized Value
IDUA iduronidase, alpha-L- 3.72432
IDS iduronate 2-sulfatase 3.64448
GALNS galactosamine (N-acetyl)-6-sulfatase 3.13916
NAGLU N-acetylglucosaminidase, alpha 2.97595
ARSB arylsulfatase B 2.97194
SGSH N-sulfoglucosamine sulfohydrolase 2.91296
GUSB glucuronidase, beta 2.74168
ARSH arylsulfatase family, member H 2.50498
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 2.13015
GNS glucosamine (N-acetyl)-6-sulfatase 1.69405
M6PR mannose-6-phosphate receptor (cation dependent) 1.63814
GAA glucosidase, alpha; acid 1.6359
SUMF1 sulfatase modifying factor 1 1.60994
ARSA arylsulfatase A 1.36727
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 1.35115
GLB1 galactosidase, beta 1 1.3276
ARSG arylsulfatase G 1.20656
HEXA hexosaminidase A (alpha polypeptide) 1.09587
ARSD arylsulfatase D 1.08663
GOLGA2 golgin A2 1.05639
EDEM3 ER degradation enhancer, mannosidase alpha-like 3 1.04251
HYAL1 hyaluronoglucosaminidase 1 1.02271
EEF1A1P6 eukaryotic translation elongation factor 1 alpha 1 pseudogene 6 0.985585
ARSE arylsulfatase E (chondrodysplasia punctata 1) 0.968341
DYM dymeclin 0.918024
ARMC9 armadillo repeat containing 9 0.909376
EEF1A1 eukaryotic translation elongation factor 1 alpha 1 0.847078
SPAM1 sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 0.840115
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 0.818385
HYAL4 hyaluronoglucosaminidase 4 0.811001
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 0.785165
RAB33B RAB33B, member RAS oncogene family 0.779023
SCAF11 SR-related CTD-associated factor 11 0.757378
HYAL2 hyaluronoglucosaminidase 2 0.756971
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 0.743547
LAMP1 lysosomal-associated membrane protein 1 0.742735
EDEM2 ER degradation enhancer, mannosidase alpha-like 2 0.705949
CAV2 caveolin 2 0.698313
PSG6 pregnancy specific beta-1-glycoprotein 6 0.689492
LGSN lengsin, lens protein with glutamine synthetase domain 0.66199
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 0.661197
MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 0.660404
MANBA mannosidase, beta A, lysosomal 0.65565
ASB2 ankyrin repeat and SOCS box containing 2 0.654067
CTSS cathepsin S 0.638676
PTOV1 prostate tumor overexpressed 1 0.624927
CRTAP cartilage associated protein 0.60108
PDIA5 protein disulfide isomerase family A, member 5 0.566054
CD34 CD34 molecule 0.550911
ST6GALNAC1 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 0.53657
LAMP2 lysosomal-associated membrane protein 2 0.529994
EDEM1 ER degradation enhancer, mannosidase alpha-like 1 0.518034
CBLN1 cerebellin 1 precursor 0.516494
STS steroid sulfatase (microsomal), isozyme S 0.504973
LCAT lecithin-cholesterol acyltransferase 0.493885
EXTL2 exostosin-like glycosyltransferase 2 0.484364
APRT adenine phosphoribosyltransferase 0.462772
PGM2 phosphoglucomutase 2 0.451831
TAX1BP1 Tax1 (human T-cell leukemia virus type I) binding protein 1 0.436026
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 0.430768
AFF2 AF4/FMR2 family, member 2 0.421765
IGF2R insulin-like growth factor 2 receptor 0.417644
CHIT1 chitinase 1 (chitotriosidase) 0.413901
FCGRT Fc fragment of IgG, receptor, transporter, alpha 0.407545
HEXDC hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 0.406798
CTSA cathepsin A 0.396725
TFEB transcription factor EB 0.385193
MMP12 matrix metallopeptidase 12 0.384822
XYLT2 xylosyltransferase II 0.378143
GLA galactosidase, alpha 0.370737
HEXB hexosaminidase B (beta polypeptide) 0.35082
GBA glucosidase, beta, acid 0.343473
LIG3 ligase III, DNA, ATP-dependent 0.33651
ZSCAN1 zinc finger and SCAN domain containing 1 0.333218
PXT1 peroxisomal, testis specific 1 0.332121
PGK1 phosphoglycerate kinase 1 0.308842
PEX6 peroxisomal biogenesis factor 6 0.282225
DIO3 deiodinase, iodothyronine, type III 0.281868
NPC2 Niemann-Pick disease, type C2 0.279367
ACPP acid phosphatase, prostate 0.270819
XYLT1 xylosyltransferase I 0.270464
CRMP1 collapsin response mediator protein 1 0.269753
MCOLN1 mucolipin 1 0.268687
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 0.263722
MZF1 myeloid zinc finger 1 0.253831
GPC5 glypican 5 0.250311
GANC glucosidase, alpha; neutral C 0.250311
PEX2 peroxisomal biogenesis factor 2 0.243645
DCN decorin 0.238403
P3H1 prolyl 3-hydroxylase 1 0.233878
ACP2 acid phosphatase 2, lysosomal 0.229716
TFRC transferrin receptor 0.226262
DPEP1 dipeptidase 1 (renal) 0.220766
SLC4A11 solute carrier family 4, sodium borate transporter, member 11 0.218034
NEU3 sialidase 3 (membrane sialidase) 0.217012
MAN2B1 mannosidase, alpha, class 2B, member 1 0.214975
TLR4 toll-like receptor 4 0.212945
KRT12 keratin 12, type I 0.208579
ENGASE endo-beta-N-acetylglucosaminidase 0.202946
OSTM1 osteopetrosis associated transmembrane protein 1 0.200006
LAX1 lymphocyte transmembrane adaptor 1 0.18591
CLDN5 claudin 5 0.180652
INSR insulin receptor 0.177576
ZFX zinc finger protein, X-linked 0.175411
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 0.173314
TACSTD2 tumor-associated calcium signal transducer 2 0.173314
GM2A GM2 ganglioside activator 0.172544
TDG thymine-DNA glycosylase 0.170789
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 0.170544
SCP2 sterol carrier protein 2 0.166995
CKAP5 cytoskeleton associated protein 5 0.163523
ZFY zinc finger protein, Y-linked 0.158778
GALC galactosylceramidase 0.141233
ACAT1 acetyl-CoA acetyltransferase 1 0.136207
PPIB peptidylprolyl isomerase B (cyclophilin B) 0.1348
PTK2B protein tyrosine kinase 2 beta 0.134361
SIX5 SIX homeobox 5 0.13239
MID2 midline 2 0.132332
GZMM granzyme M (lymphocyte met-ase 1) 0.131707
AGA aspartylglucosaminidase 0.131608
UBR5 ubiquitin protein ligase E3 component n-recognin 5 0.130882
FMR1 fragile X mental retardation 1 0.129842
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 0.129724
TRIM37 tripartite motif containing 37 0.128569
ESD esterase D 0.128153
CTSB cathepsin B 0.128
SLC6A7 solute carrier family 6 (neurotransmitter transporter), member 7 0.127671
SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit 0.125853
MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 0.125834
ST14 suppression of tumorigenicity 14 (colon carcinoma) 0.1232
MGAT4C MGAT4 family, member C 0.123009
CYBA cytochrome b-245, alpha polypeptide 0.122452
ACO2 aconitase 2, mitochondrial 0.122427
DLK1 delta-like 1 homolog (Drosophila) 0.122029
DCT dopachrome tautomerase 0.121826
MRC1 mannose receptor, C type 1 0.119786
CTLA4 cytotoxic T-lymphocyte-associated protein 4 0.119332
NES nestin 0.118922
NPC1 Niemann-Pick disease, type C1 0.118569
F9 coagulation factor IX 0.11756
CST7 cystatin F (leukocystatin) 0.116735
SOX9 SRY (sex determining region Y)-box 9 0.116116
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 0.114232
OTC ornithine carbamoyltransferase 0.114197
TYK2 tyrosine kinase 2 0.113442
SDC1 syndecan 1 0.112743
C6ORF25 chromosome 6 open reading frame 25 0.112217
IGF2 insulin-like growth factor 2 0.111991
COL1A1 collagen, type I, alpha 1 0.110463
VCAN versican 0.10953
GLS glutaminase 0.10853
ACAN aggrecan 0.107372
PGRMC1 progesterone receptor membrane component 1 0.105091
HGF hepatocyte growth factor (hepapoietin A; scatter factor) 0.104536
AR androgen receptor 0.103926
COL1A2 collagen, type I, alpha 2 0.103739
SMAD3 SMAD family member 3 0.103549
OCLN occludin 0.101901