alpha-mannosidosis Gene Set
Dataset
DISEASES Text-mining Gene-Disease Association Evidence Scores
Category
disease or phenotype associations
Type
disease
Description
A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. (Human Disease Ontology , DOID_3413 )
Similar Terms
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Genes
24 genes co-occuring with the disease alpha-mannosidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
Symbol
Name
Standardized Value
MAN2B1
mannosidase, alpha, class 2B, member 1
3.88992
HEXA
hexosaminidase A (alpha polypeptide)
1.56444
MANBA
mannosidase, beta A, lysosomal
1.26037
AGA
aspartylglucosaminidase
1.07446
UPK1A
uroplakin 1A
1.069
MAN2C1
mannosidase, alpha, class 2C, member 1
1.05807
TEAD2
TEA domain family member 2
1.01807
M6PR
mannose-6-phosphate receptor (cation dependent)
1.01427
GAA
glucosidase, alpha; acid
0.960797
HEXDC
hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing
0.736243
EEF1A1P6
eukaryotic translation elongation factor 1 alpha 1 pseudogene 6
0.71078
NAGLU
N-acetylglucosaminidase, alpha
0.701526
MCOLN1
mucolipin 1
0.60342
EEF1A1
eukaryotic translation elongation factor 1 alpha 1
0.578106
DNAJB1
DnaJ (Hsp40) homolog, subfamily B, member 1
0.571107
ASS1
argininosuccinate synthase 1
0.565666
SLC17A5
solute carrier family 17 (acidic sugar transporter), member 5
0.51919
APPL1
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
0.42289
LAMP1
lysosomal-associated membrane protein 1
0.40008
ARSA
arylsulfatase A
0.333583
CTSB
cathepsin B
0.17952
ACTB
actin, beta
0.177576
GBA
glucosidase, beta, acid
0.170544
ACTG1
actin gamma 1
0.159302