Mucopolysaccharidosis Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0023786
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Genes

116 genes associated with the disease Mucopolysaccharidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ACAN aggrecan
ACP2 acid phosphatase 2, lysosomal
ACP5 acid phosphatase 5, tartrate resistant
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5
AFF2 AF4/FMR2 family, member 2
ALAS2 5'-aminolevulinate synthase 2
APRT adenine phosphoribosyltransferase
ARMC9 armadillo repeat containing 9
ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2
ARSA arylsulfatase A
ARSB arylsulfatase B
ARSG arylsulfatase G
ARSH arylsulfatase family, member H
ATN1 atrophin 1
BMP4 bone morphogenetic protein 4
CANX calnexin
CAT catalase
CCL2 chemokine (C-C motif) ligand 2
CD1D CD1d molecule
CD34 CD34 molecule
CD38 CD38 molecule
CD99 CD99 molecule
CHAT choline O-acetyltransferase
CHRM3 cholinergic receptor, muscarinic 3
CLOCK clock circadian regulator
COL10A1 collagen, type X, alpha 1
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CRTAP cartilage associated protein
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CTSB cathepsin B
CTSK cathepsin K
CYLD cylindromatosis (turban tumor syndrome)
DESI1 desumoylating isopeptidase 1
DPEP1 dipeptidase 1 (renal)
EGF epidermal growth factor
EGFR epidermal growth factor receptor
ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific )
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EXTL2 exostosin-like glycosyltransferase 2
EXTL3 exostosin-like glycosyltransferase 3
F9 coagulation factor IX
FGFR3 fibroblast growth factor receptor 3
FKBP14 FK506 binding protein 14, 22 kDa
FLNB filamin B, beta
FMR1 fragile X mental retardation 1
FOXG1 forkhead box G1
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
GALNS galactosamine (N-acetyl)-6-sulfatase
GH1 growth hormone 1
GLB1 galactosidase, beta 1
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNS glucosamine (N-acetyl)-6-sulfatase
GOLGB1 golgin B1
GUSB glucuronidase, beta
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HYAL1 hyaluronoglucosaminidase 1
HYAL2 hyaluronoglucosaminidase 2
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
INSR insulin receptor
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
L1CAM L1 cell adhesion molecule
LAMA5 laminin, alpha 5
LAMC2 laminin, gamma 2
LGSN lengsin, lens protein with glutamine synthetase domain
LPA lipoprotein, Lp(a)
MAP1LC3A microtubule-associated protein 1 light chain 3 alpha
MPEG1 macrophage expressed 1
NAGLU N-acetylglucosaminidase, alpha
NBN nibrin
NEK1 NIMA-related kinase 1
NME1 NME/NM23 nucleoside diphosphate kinase 1
NT5E 5'-nucleotidase, ecto (CD73)
OGA O-GlcNAcase
OPRM1 opioid receptor, mu 1
P3H1 prolyl 3-hydroxylase 1
PDIA5 protein disulfide isomerase family A, member 5
PER1 period circadian clock 1
PER2 period circadian clock 2
PGRMC1 progesterone receptor membrane component 1
PLXNA2 plexin A2
PTPRC protein tyrosine phosphatase, receptor type, C
RPL10 ribosomal protein L10
RPS27 ribosomal protein S27
SGSH N-sulfoglucosamine sulfohydrolase
SHOX short stature homeobox
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1
SLC26A1 solute carrier family 26 (anion exchanger), member 1
SLC26A11 solute carrier family 26 (anion exchanger), member 11
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC35G1 solute carrier family 35, member G1
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SPAM1 sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)
SQSTM1 sequestosome 1
ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1
ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2
ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
SUMF1 sulfatase modifying factor 1
TAPT1 transmembrane anterior posterior transformation 1
TFEB transcription factor EB
TFRC transferrin receptor
TH tyrosine hydroxylase
TMPPE transmembrane protein with metallophosphoesterase domain
TNMD tenomodulin
TP53 tumor protein p53
TRAPPC2 trafficking protein particle complex 2
TRAPPC2B trafficking protein particle complex 2B
TRAPPC2L trafficking protein particle complex 2-like
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSPO translocator protein (18kDa)
TTK TTK protein kinase
VEGFA vascular endothelial growth factor A
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)