mucolipidosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). (Human Disease Ontology, DOID_3343)
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Genes

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

Symbol Name Standardized Value
MCOLN1 mucolipin 1 3.47172
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 2.7788
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit 2.50231
MCOLN3 mucolipin 3 1.99872
MCOLN2 mucolipin 2 1.97317
NEU3 sialidase 3 (membrane sialidase) 1.74051
GLB1 galactosidase, beta 1 1.60457
CEP104 centrosomal protein 104kDa 1.50052
ARSA arylsulfatase A 1.27824
HEXA hexosaminidase A (alpha polypeptide) 1.23082
M6PR mannose-6-phosphate receptor (cation dependent) 1.22605
SC5D sterol-C5-desaturase 1.19445
ARSH arylsulfatase family, member H 1.17421
ARHGEF18 Rho/Rac guanine nucleotide exchange factor (GEF) 18 1.13163
ENGASE endo-beta-N-acetylglucosaminidase 1.11057
CTSD cathepsin D 1.09545
TMEM163 transmembrane protein 163 1.08663
NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 1.07446
FUCA2 fucosidase, alpha-L- 2, plasma 1.04335
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 0.99908
GUSB glucuronidase, beta 0.907731
IDS iduronate 2-sulfatase 0.885979
TPCN2 two pore segment channel 2 0.814283
VPS4B vacuolar protein sorting 4 homolog B (S. cerevisiae) 0.74761
GAA glucosidase, alpha; acid 0.703134
PKD2 polycystic kidney disease 2 (autosomal dominant) 0.702732
LAMP2 lysosomal-associated membrane protein 2 0.688692
MFSD8 major facilitator superfamily domain containing 8 0.675909
NAGLU N-acetylglucosaminidase, alpha 0.67113
AGA aspartylglucosaminidase 0.666755
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 0.650903
TPSG1 tryptase gamma 1 0.649323
MAN2C1 mannosidase, alpha, class 2C, member 1 0.634349
LAMP1 lysosomal-associated membrane protein 1 0.584719
TPCN1 two pore segment channel 1 0.566443
GBA glucosidase, beta, acid 0.500379
IGF2R insulin-like growth factor 2 receptor 0.497703
MAN2B1 mannosidase, alpha, class 2B, member 1 0.497321
ACPP acid phosphatase, prostate 0.490072
GAST gastrin 0.489311
LEMD3 LEM domain containing 3 0.483224
WRAP73 WD repeat containing, antisense to TP73 0.456355
LAPTM4B lysosomal protein transmembrane 4 beta 0.442418
CHIT1 chitinase 1 (chitotriosidase) 0.438658
NPC1 Niemann-Pick disease, type C1 0.436026
SQSTM1 sequestosome 1 0.434148
ACO1 aconitase 1, soluble 0.430393
CTSS cathepsin S 0.426265
ARF6 ADP-ribosylation factor 6 0.400826
PLCH2 phospholipase C, eta 2 0.397098
CLN5 ceroid-lipofuscinosis, neuronal 5 0.391141
GALNS galactosamine (N-acetyl)-6-sulfatase 0.37555
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 0.361133
CTSL cathepsin L 0.355235
PSAP prosaposin 0.343473
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 0.339806
HEXDC hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 0.337975
PRKD1 protein kinase D1 0.32774
CTSB cathepsin B 0.325552
PPT1 palmitoyl-protein thioesterase 1 0.325552
NEB nebulin 0.322637
NAGA N-acetylgalactosaminidase, alpha- 0.319363
TRPC3 transient receptor potential cation channel, subfamily C, member 3 0.290103
MBTPS1 membrane-bound transcription factor peptidase, site 1 0.284013
HTN3 histatin 3 0.28151
ALPPL2 alkaline phosphatase, placental-like 2 0.277227
ALPP alkaline phosphatase, placental 0.27687
ALPL alkaline phosphatase, liver/bone/kidney 0.276158
ARSB arylsulfatase B 0.267977
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1 0.266913
PNPLA6 patatin-like phospholipase domain containing 6 0.252774
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.225229
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2 0.224884
RER1 retention in endoplasmic reticulum sorting receptor 1 0.205585
DHCR7 7-dehydrocholesterol reductase 0.199033
TNFRSF14 tumor necrosis factor receptor superfamily, member 14 0.198064
TPM3 tropomyosin 3 0.192031
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 0.190786
NPC2 Niemann-Pick disease, type C2 0.185612
CASR calcium-sensing receptor 0.179802
PTH parathyroid hormone 0.178403
MRC1 mannose receptor, C type 1 0.163523