mucopolysaccharidosis iii Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. (Human Disease Ontology, DOID_12801)
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Genes

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

Symbol Name Standardized Value
SGSH N-sulfoglucosamine sulfohydrolase 3.56616
NAGLU N-acetylglucosaminidase, alpha 3.08336
GOLGA2 golgin A2 1.67864
ARSH arylsulfatase family, member H 1.6507
ARMC9 armadillo repeat containing 9 1.52204
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 1.37294
SUMF1 sulfatase modifying factor 1 1.35376
GNS glucosamine (N-acetyl)-6-sulfatase 1.16221
M6PR mannose-6-phosphate receptor (cation dependent) 1.15198
ZSCAN1 zinc finger and SCAN domain containing 1 0.891718
MZF1 myeloid zinc finger 1 0.801154
GPC5 glypican 5 0.797052
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 0.707157
LAMP1 lysosomal-associated membrane protein 1 0.706351
MANBA mannosidase, beta A, lysosomal 0.684692
TFEB transcription factor EB 0.563723
SIX5 SIX homeobox 5 0.562946
EEF1A1P6 eukaryotic translation elongation factor 1 alpha 1 pseudogene 6 0.561781
GZMM granzyme M (lymphocyte met-ase 1) 0.540829
CAV2 caveolin 2 0.524202
NPC2 Niemann-Pick disease, type C2 0.452585
EEF1A1 eukaryotic translation elongation factor 1 alpha 1 0.433397
IGF2R insulin-like growth factor 2 receptor 0.384079
XYLT2 xylosyltransferase II 0.344941
CLDN5 claudin 5 0.34384
NPC1 Niemann-Pick disease, type C1 0.291898
PGK1 phosphoglycerate kinase 1 0.276514
XYLT1 xylosyltransferase I 0.238752
ARSA arylsulfatase A 0.200331
OCLN occludin 0.158097
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