alpha-mannosidosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation 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)
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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