beta-mannosidosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. (Human Disease Ontology, DOID_3633)
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Genes

119 genes co-occuring with the disease beta-mannosidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
MANBA mannosidase, beta A, lysosomal 3.479
MAN2B1 mannosidase, alpha, class 2B, member 1 2.719
CTBS chitobiase, di-N-acetyl- 2.538
MAN2B2 mannosidase, alpha, class 2B, member 2 2.146
NAGA N-acetylgalactosaminidase, alpha- 2.056
FUCA1 fucosidase, alpha-L- 1, tissue 2.002
RSC1A1 regulatory solute carrier protein, family 1, member 1 1.983
ATP1B4 ATPase, Na+/K+ transporting, beta 4 polypeptide 1.88
SERAC1 serine active site containing 1 1.838
NGLY1 N-glycanase 1 1.772
MAN2A1 mannosidase, alpha, class 2A, member 1 1.745
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 1.704
PEX1 peroxisomal biogenesis factor 1 1.7
ACY1 aminoacylase 1 1.697
ADSL adenylosuccinate lyase 1.69
NAGLU N-acetylglucosaminidase, alpha 1.621
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 1.611
MAN2C1 mannosidase, alpha, class 2C, member 1 1.608
MAN2A2 mannosidase, alpha, class 2A, member 2 1.602
MANEA mannosidase, endo-alpha 1.596
KATNB1 katanin p80 (WD repeat containing) subunit B 1 1.559
PSAP prosaposin 1.549
SNX14 sorting nexin 14 1.548
CACNG3 calcium channel, voltage-dependent, gamma subunit 3 1.544
CEP89 centrosomal protein 89kDa 1.532
DSCAML1 Down syndrome cell adhesion molecule like 1 1.514
HCCS holocytochrome c synthase 1.47
GLA galactosidase, alpha 1.468
GLRA1 glycine receptor, alpha 1 1.452
LENG1 leukocyte receptor cluster (LRC) member 1 1.438
MOGS mannosyl-oligosaccharide glucosidase 1.431
NPAP1 nuclear pore associated protein 1 1.413
PDZD7 PDZ domain containing 7 1.409
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3 1.403
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 1.393
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2 1.388
GALC galactosylceramidase 1.373
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial 1.372
CTSA cathepsin A 1.37
APRT adenine phosphoribosyltransferase 1.355
DLG3 discs, large homolog 3 (Drosophila) 1.337
NPC2 Niemann-Pick disease, type C2 1.325
VARS2 valyl-tRNA synthetase 2, mitochondrial 1.325
GAMT guanidinoacetate N-methyltransferase 1.322
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase 1.322
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 1.318
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3 1.316
CCS copper chaperone for superoxide dismutase 1.305
COG6 component of oligomeric golgi complex 6 1.304
RPIA ribose 5-phosphate isomerase A 1.303
HIVEP2 human immunodeficiency virus type I enhancer binding protein 2 1.297
SGSH N-sulfoglucosamine sulfohydrolase 1.297
CLN5 ceroid-lipofuscinosis, neuronal 5 1.295
MAN1B1 mannosidase, alpha, class 1B, member 1 1.289
PNPLA6 patatin-like phospholipase domain containing 6 1.28
MAG myelin associated glycoprotein 1.279
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 1.271
COX6A1 cytochrome c oxidase subunit VIa polypeptide 1 1.26
GLB1 galactosidase, beta 1 1.259
FDXR ferredoxin reductase 1.258
ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 1.257
NPC1 Niemann-Pick disease, type C1 1.256
WDR45 WD repeat domain 45 1.247
RMND5B required for meiotic nuclear division 5 homolog B (S. cerevisiae) 1.241
CERS3 ceramide synthase 3 1.231
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 1.227
IDUA iduronidase, alpha-L- 1.216
MYL7 myosin, light chain 7, regulatory 1.212
CLN3 ceroid-lipofuscinosis, neuronal 3 1.209
NPB neuropeptide B 1.204
COQ6 coenzyme Q6 monooxygenase 1.202
PNPO pyridoxamine 5'-phosphate oxidase 1.202
MARS2 methionyl-tRNA synthetase 2, mitochondrial 1.199
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 1.196
MPP3 membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) 1.189
RNASET2 ribonuclease T2 1.188
VARS1 valyl-tRNA synthetase 1 1.185
QDPR quinoid dihydropteridine reductase 1.183
TMEM255A transmembrane protein 255A 1.183
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 1.182
PI4K2A phosphatidylinositol 4-kinase type 2 alpha 1.181
CERS4 ceramide synthase 4 1.181
PLB1 phospholipase B1 1.181
PPT1 palmitoyl-protein thioesterase 1 1.179
DTWD2 DTW domain containing 2 1.159
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 1.154
ANKRD29 ankyrin repeat domain 29 1.154
NAXE NAD(P)HX epimerase 1.151
MKRN3 makorin ring finger protein 3 1.143
AP1S1 adaptor-related protein complex 1, sigma 1 subunit 1.133
KANSL1 KAT8 regulatory NSL complex subunit 1 1.129
LOXHD1 lipoxygenase homology domains 1 1.116
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant 1.112
PCCA propionyl CoA carboxylase, alpha polypeptide 1.112
EARS2 glutamyl-tRNA synthetase 2, mitochondrial 1.109
PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 1.101
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit 1.1
PRPS1 phosphoribosyl pyrophosphate synthetase 1 1.099
PKIG protein kinase (cAMP-dependent, catalytic) inhibitor gamma 1.083
ELOVL4 ELOVL fatty acid elongase 4 1.082
MCOLN1 mucolipin 1 1.059
SLC19A2 solute carrier family 19 (thiamine transporter), member 2 1.058
GALNS galactosamine (N-acetyl)-6-sulfatase 1.057
ASNS asparagine synthetase (glutamine-hydrolyzing) 1.056
MBP myelin basic protein 1.046
FMO3 flavin containing monooxygenase 3 1.04
CLRN1 clarin 1 1.04
SNAP29 synaptosomal-associated protein, 29kDa 1.038
CHRNE cholinergic receptor, nicotinic, epsilon (muscle) 1.031
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 1.03
SRRM3 serine/arginine repetitive matrix 3 1.025
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) 1.023
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) 1.019
CNTNAP1 contactin associated protein 1 1.018
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 1.012
CERS2 ceramide synthase 2 1.008
HCFC1 host cell factor C1 1.006
MAN1A1 mannosidase, alpha, class 1A, member 1 1.005
ARSA arylsulfatase A 1.003