Mucolipidosis 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 is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). (Human Disease Ontology, DOID_3343)
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Genes

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

Symbol Name Standardized Value
MCOLN1 mucolipin 1 3.91
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 3.457
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit 3.454
NEU1 sialidase 1 (lysosomal sialidase) 3.349
MCOLN3 mucolipin 3 3.347
MCOLN2 mucolipin 2 3.328
CTSA cathepsin A 3.084
NEU4 sialidase 4 2.887
NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 2.748
NPC1 Niemann-Pick disease, type C1 2.657
NEU3 sialidase 3 (membrane sialidase) 2.652
TPCN2 two pore segment channel 2 2.613
TFEB transcription factor EB 2.575
LAMP1 lysosomal-associated membrane protein 1 2.505
NEU2 sialidase 2 (cytosolic sialidase) 2.497
M6PR mannose-6-phosphate receptor (cation dependent) 2.474
CLN3 ceroid-lipofuscinosis, neuronal 3 2.464
GLB1 galactosidase, beta 1 2.454
PSAP prosaposin 2.428
CTSD cathepsin D 2.4
NPC2 Niemann-Pick disease, type C2 2.353
NAGLU N-acetylglucosaminidase, alpha 2.341
ARSB arylsulfatase B 2.281
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 2.279
GALNS galactosamine (N-acetyl)-6-sulfatase 2.277
FUCA1 fucosidase, alpha-L- 1, tissue 2.242
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant 2.241
PPT1 palmitoyl-protein thioesterase 1 2.237
IDUA iduronidase, alpha-L- 2.228
MBTPS1 membrane-bound transcription factor peptidase, site 1 2.218
PIKFYVE phosphoinositide kinase, FYVE finger containing 2.216
FUCA2 fucosidase, alpha-L- 2, plasma 2.157
LAMP2 lysosomal-associated membrane protein 2 2.131
GLA galactosidase, alpha 2.118
CLCN7 chloride channel, voltage-sensitive 7 2.091
ARSA arylsulfatase A 2.089
CTSS cathepsin S 2.087
OGA O-GlcNAcase 2.086
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 2.079
GM2A GM2 ganglioside activator 2.077
TPCN1 two pore segment channel 1 2.074
SYT7 synaptotagmin VII 2.074
MAN2C1 mannosidase, alpha, class 2C, member 1 2.034
IGF2R insulin-like growth factor 2 receptor 2.025
CTSB cathepsin B 2.014
CLN5 ceroid-lipofuscinosis, neuronal 5 2.007
CSTB cystatin B (stefin B) 1.987
SUMF1 sulfatase modifying factor 1 1.984
IDS iduronate 2-sulfatase 1.973
TRPC1 transient receptor potential cation channel, subfamily C, member 1 1.97
VAC14 Vac14 homolog (S. cerevisiae) 1.968
TRPV6 transient receptor potential cation channel, subfamily V, member 6 1.968
MANBA mannosidase, beta A, lysosomal 1.961
TRPM1 transient receptor potential cation channel, subfamily M, member 1 1.957
GALC galactosylceramidase 1.953
MAN2B1 mannosidase, alpha, class 2B, member 1 1.951
SORT1 sortilin 1 1.949
FIG4 FIG4 phosphoinositide 5-phosphatase 1.932
TRPC3 transient receptor potential cation channel, subfamily C, member 3 1.918
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 1.915
TRPM6 transient receptor potential cation channel, subfamily M, member 6 1.912
CTNS cystinosin, lysosomal cystine transporter 1.903
TRPV4 transient receptor potential cation channel, subfamily V, member 4 1.902
TRPV5 transient receptor potential cation channel, subfamily V, member 5 1.901
ATP13A2 ATPase type 13A2 1.898
GUSB glucuronidase, beta 1.888
TRPA1 transient receptor potential cation channel, subfamily A, member 1 1.887
TRPV2 transient receptor potential cation channel, subfamily V, member 2 1.881
DNAH8 dynein, axonemal, heavy chain 8 1.879
SGSH N-sulfoglucosamine sulfohydrolase 1.874
TRPM3 transient receptor potential cation channel, subfamily M, member 3 1.86
PKD2 polycystic kidney disease 2 (autosomal dominant) 1.846
TRPV1 transient receptor potential cation channel, subfamily V, member 1 1.843
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 1.837
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 1.821
TRPM7 transient receptor potential cation channel, subfamily M, member 7 1.815
TRPM4 transient receptor potential cation channel, subfamily M, member 4 1.801
TRPC6 transient receptor potential cation channel, subfamily C, member 6 1.799
TRPV3 transient receptor potential cation channel, subfamily V, member 3 1.793
TRPM5 transient receptor potential cation channel, subfamily M, member 5 1.788
TMEM163 transmembrane protein 163 1.788
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 1.787
KCTD7 potassium channel tetramerization domain containing 7 1.776
PKD2L1 polycystic kidney disease 2-like 1 1.775
PKD2L2 polycystic kidney disease 2-like 2 1.74
TRPC4 transient receptor potential cation channel, subfamily C, member 4 1.74
TMEM175 transmembrane protein 175 1.739
HSPA8 heat shock 70kDa protein 8 1.734
TPP1 tripeptidyl peptidase I 1.732
SNCA synuclein, alpha (non A4 component of amyloid precursor) 1.723
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 1.719
ARL5B ADP-ribosylation factor-like 5B 1.702
VAMP7 vesicle-associated membrane protein 7 1.698
TRPC5 transient receptor potential cation channel, subfamily C, member 5 1.688
SQSTM1 sequestosome 1 1.684
MTOR mechanistic target of rapamycin (serine/threonine kinase) 1.68
TRPM8 transient receptor potential cation channel, subfamily M, member 8 1.669
PDCD6 programmed cell death 6 1.653
CHIT1 chitinase 1 (chitotriosidase) 1.648
PKD1 polycystic kidney disease 1 (autosomal dominant) 1.642
CTSL cathepsin L 1.642
SI sucrase-isomaltase (alpha-glucosidase) 1.639
MGAM maltase-glucoamylase 1.637
CALM3 calmodulin 3 (phosphorylase kinase, delta) 1.635
TRPM2 transient receptor potential cation channel, subfamily M, member 2 1.634
STIM1 stromal interaction molecule 1 1.633
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae) 1.632
STAG1 stromal antigen 1 1.628
SCARB2 scavenger receptor class B, member 2 1.627
SLC30A2 solute carrier family 30 (zinc transporter), member 2 1.613
CTSK cathepsin K 1.602
CALML4 calmodulin-like 4 1.597
CALML6 calmodulin-like 6 1.597
CALML3 calmodulin-like 3 1.595
CALML5 calmodulin-like 5 1.594
OSTM1 osteopetrosis associated transmembrane protein 1 1.593
SLC39A14 solute carrier family 39 (zinc transporter), member 14 1.587
ARF6 ADP-ribosylation factor 6 1.585
ITPR3 inositol 1,4,5-trisphosphate receptor, type 3 1.585
UGCG UDP-glucose ceramide glucosyltransferase 1.582
TFE3 transcription factor binding to IGHM enhancer 3 1.582
RAB5A RAB5A, member RAS oncogene family 1.581
EEA1 early endosome antigen 1 1.572
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 1.571
BECN1 beclin 1, autophagy related 1.571
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 1.559
MFSD8 major facilitator superfamily domain containing 8 1.549
TBC1D15 TBC1 domain family, member 15 1.544
GABARAPL2 GABA(A) receptor-associated protein-like 2 1.541
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 1.54
BORCS6 BLOC-1 related complex subunit 6 1.538
ULK1 unc-51 like autophagy activating kinase 1 1.521
HEXD hexosaminidase D 1.519
DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1 1.506
AGA aspartylglucosaminidase 1.506
HTT huntingtin 1.497
VPS16 vacuolar protein sorting 16 homolog (S. cerevisiae) 1.497
LIPA lipase A, lysosomal acid, cholesterol esterase 1.492
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit 1.491
SLC38A9 solute carrier family 38, member 9 1.491
CIDEB cell death-inducing DFFA-like effector b 1.49
P2RX4 purinergic receptor P2X, ligand gated ion channel, 4 1.487
TPM3 tropomyosin 3 1.485
PSEN1 presenilin 1 1.466
GABARAPL1 GABA(A) receptor-associated protein like 1 1.463
APP amyloid beta (A4) precursor protein 1.46
KCNC1 potassium channel, voltage gated Shaw related subfamily C, member 1 1.46
CTSF cathepsin F 1.456
ORAI1 ORAI calcium release-activated calcium modulator 1 1.455
SLC30A3 solute carrier family 30 (zinc transporter), member 3 1.453
GAST gastrin 1.446
NAGA N-acetylgalactosaminidase, alpha- 1.438
MAP1A microtubule-associated protein 1A 1.438
SLC66A1 solute carrier family 66 member 1 1.434
ATG5 autophagy related 5 1.428
ATG7 autophagy related 7 1.427
VDAC1 voltage-dependent anion channel 1 1.424
GOSR2 golgi SNAP receptor complex member 2 1.422
SLC30A4 solute carrier family 30 (zinc transporter), member 4 1.421
STARD3 StAR-related lipid transfer (START) domain containing 3 1.42
PIK3R4 phosphoinositide-3-kinase, regulatory subunit 4 1.411
MCU mitochondrial calcium uniporter 1.41
RYR1 ryanodine receptor 1 (skeletal) 1.406
CTSC cathepsin C 1.401
TFRC transferrin receptor 1.388
MAP1S microtubule-associated protein 1S 1.385
NUDT9 nudix (nucleoside diphosphate linked moiety X)-type motif 9 1.381
SLC30A5 solute carrier family 30 (zinc transporter), member 5 1.38
PIP4P1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 1.376
CAMKK2 calcium/calmodulin-dependent protein kinase kinase 2, beta 1.371
USH1C Usher syndrome 1C (autosomal recessive, severe) 1.37
GBA2 glucosidase, beta (bile acid) 2 1.365
MAP1B microtubule-associated protein 1B 1.361
ATN1 atrophin 1 1.36
RAB11A RAB11A, member RAS oncogene family 1.357
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 1.353
MFSD6L major facilitator superfamily domain containing 6-like 1.348
CTSH cathepsin H 1.346
PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1 1.344
SNX14 sorting nexin 14 1.341
ARL8B ADP-ribosylation factor-like 8B 1.341
OSBP oxysterol binding protein 1.34
VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae) 1.339
SLC30A1 solute carrier family 30 (zinc transporter), member 1 1.333
ZFYVE27 zinc finger, FYVE domain containing 27 1.331
RAB7A RAB7A, member RAS oncogene family 1.33
SLC30A6 solute carrier family 30 (zinc transporter), member 6 1.328
ELN elastin 1.324
GNS glucosamine (N-acetyl)-6-sulfatase 1.321
VPS39 vacuolar protein sorting 39 homolog (S. cerevisiae) 1.317
SDCBP syndecan binding protein (syntenin) 1.315
SNAP29 synaptosomal-associated protein, 29kDa 1.314
SPG11 spastic paraplegia 11 (autosomal recessive) 1.313
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1.313
STEAP3 STEAP family member 3, metalloreductase 1.305
SNX2 sorting nexin 2 1.302
VTI1B vesicle transport through interaction with t-SNAREs 1B 1.3
PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3 1.291
RYR2 ryanodine receptor 2 (cardiac) 1.291
ALB albumin 1.29
CLCN3 chloride channel, voltage-sensitive 3 1.29
YIF1A Yip1 interacting factor homolog A (S. cerevisiae) 1.278
ATG12 autophagy related 12 1.266
ANK1 ankyrin 1, erythrocytic 1.257
FYCO1 FYVE and coiled-coil domain containing 1 1.255
RHEB Ras homolog enriched in brain 1.249
CALB1 calbindin 1, 28kDa 1.245
RRAGC Ras-related GTP binding C 1.243
CANX calnexin 1.24
CCDC154 coiled-coil domain containing 154 1.239
PKD1L3 polycystic kidney disease 1-like 3 1.236
PRKD1 protein kinase D1 1.236
TMEM106B transmembrane protein 106B 1.234
EGF epidermal growth factor 1.234
ZNF808 zinc finger protein 808 1.232
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae) 1.232
PPT2 palmitoyl-protein thioesterase 2 1.229
SLC39A8 solute carrier family 39 (zinc transporter), member 8 1.228
TFEC transcription factor EC 1.228
ZFYVE26 zinc finger, FYVE domain containing 26 1.226
GABARAP GABA(A) receptor-associated protein 1.221
CTSZ cathepsin Z 1.22
WIPI1 WD repeat domain, phosphoinositide interacting 1 1.219
MAG myelin associated glycoprotein 1.218
IGF2 insulin-like growth factor 2 1.217
WIPI2 WD repeat domain, phosphoinositide interacting 2 1.216
UVRAG UV radiation resistance associated 1.215
GRN granulin 1.213
VPS18 vacuolar protein sorting 18 homolog (S. cerevisiae) 1.212
CCDC163 CCDC163 homolog 1.211
CD63 CD63 molecule 1.21
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.204
CLRN1 clarin 1 1.201
PRKN parkin RBR E3 ubiquitin protein ligase 1.199
STX4 syntaxin 4 1.194
SNX1 sorting nexin 1 1.19
UNKL unkempt family zinc finger-like 1.19
GAPDH glyceraldehyde-3-phosphate dehydrogenase 1.186
SLC30A9 solute carrier family 30 (zinc transporter), member 9 1.184
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 1.182
CLCN6 chloride channel, voltage-sensitive 6 1.181
STX17 syntaxin 17 1.179
GGA2 golgi-associated, gamma adaptin ear containing, ARF binding protein 2 1.179
PLIN3 perilipin 3 1.178
TMEM192 transmembrane protein 192 1.177
ATG13 autophagy related 13 1.162
ATG14 autophagy related 14 1.158
INS insulin 1.157
PSAPL1 prosaposin-like 1 (gene/pseudogene) 1.155
VAPA VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa 1.154
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 1.152
CHMP2B charged multivesicular body protein 2B 1.151
GAMT guanidinoacetate N-methyltransferase 1.149
ANK3 ankyrin 3, node of Ranvier (ankyrin G) 1.145
SCPEP1 serine carboxypeptidase 1 1.143
SYNJ1 synaptojanin 1 1.139
VPS4A vacuolar protein sorting 4 homolog A (S. cerevisiae) 1.139
RILP Rab interacting lysosomal protein 1.137
PI4K2A phosphatidylinositol 4-kinase type 2 alpha 1.137
A4GALT alpha 1,4-galactosyltransferase 1.136
ATP1B4 ATPase, Na+/K+ transporting, beta 4 polypeptide 1.135
LDLR low density lipoprotein receptor 1.133
BORCS8 BLOC-1 related complex subunit 8 1.133
RRAGA Ras-related GTP binding A 1.132
SEC13 SEC13 homolog (S. cerevisiae) 1.131
TYROBP TYRO protein tyrosine kinase binding protein 1.13
MOGS mannosyl-oligosaccharide glucosidase 1.124
STX7 syntaxin 7 1.123
GAA glucosidase, alpha; acid 1.122
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1.121
NMB neuromedin B 1.119
RTP1 receptor (chemosensory) transporter protein 1 1.118
PXDNL peroxidasin-like 1.115
SC5D sterol-C5-desaturase 1.115
CATSPERD catsper channel auxiliary subunit delta 1.114
PXDN peroxidasin 1.114
ADSL adenylosuccinate lyase 1.111
PTH parathyroid hormone 1.111
OCRL oculocerebrorenal syndrome of Lowe 1.109
HSPA4 heat shock 70kDa protein 4 1.109
PINK1 PTEN induced putative kinase 1 1.107
ANK2 ankyrin 2, neuronal 1.102
SNAP23 synaptosomal-associated protein, 23kDa 1.102
TYRP1 tyrosinase-related protein 1 1.097
ATG16L1 autophagy related 16-like 1 (S. cerevisiae) 1.096
CATSPER4 cation channel, sperm associated 4 1.096
SLC9A5 solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 1.092
KCNG2 potassium channel, voltage gated modifier subfamily G, member 2 1.087
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 1.086
FIS1 fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) 1.085
PRDM8 PR domain containing 8 1.085
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 1.083
ACTB actin, beta 1.081
MICU1 mitochondrial calcium uptake 1 1.081
MFN2 mitofusin 2 1.081
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 1.08
RB1CC1 RB1-inducible coiled-coil 1 1.08
LRRK2 leucine-rich repeat kinase 2 1.078
HYAL1 hyaluronoglucosaminidase 1 1.076
ZFYVE1 zinc finger, FYVE domain containing 1 1.074
GRAMD1B GRAM domain containing 1B 1.074
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) 1.072
TUBB4A tubulin, beta 4A class IVa 1.071
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37 1.069
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide 1.068
POLR3B polymerase (RNA) III (DNA directed) polypeptide B 1.065
VAMP8 vesicle-associated membrane protein 8 1.064
VPS26A vacuolar protein sorting 26 homolog A (S. pombe) 1.061
RASA1 RAS p21 protein activator (GTPase activating protein) 1 1.061
CATSPER3 cation channel, sperm associated 3 1.06
EFNA5 ephrin-A5 1.058
PLEK2 pleckstrin 2 1.058
NGLY1 N-glycanase 1 1.057
GOLGA2 golgin A2 1.054
TGFB1 transforming growth factor, beta 1 1.054
RYR3 ryanodine receptor 3 1.052
PLEK pleckstrin 1.05
ANTXR2 anthrax toxin receptor 2 1.05
LGALS4 lectin, galactoside-binding, soluble, 4 1.049
APOE apolipoprotein E 1.049
GOLPH3 golgi phosphoprotein 3 (coat-protein) 1.048
KCNA3 potassium channel, voltage gated shaker related subfamily A, member 3 1.046
VPS13D vacuolar protein sorting 13 homolog D (S. cerevisiae) 1.045
WDR45 WD repeat domain 45 1.04
RRAGD Ras-related GTP binding D 1.04
CNGA4 cyclic nucleotide gated channel alpha 4 1.037
CALR calreticulin 1.03
INSR insulin receptor 1.028
MON1A MON1 secretory trafficking family member A 1.024
ZNF141 zinc finger protein 141 1.024
KCNK7 potassium channel, two pore domain subfamily K, member 7 1.023
PNPO pyridoxamine 5'-phosphate oxidase 1.021
ZKSCAN3 zinc finger with KRAB and SCAN domains 3 1.02
MCUR1 mitochondrial calcium uniporter regulator 1 1.019
PTCRA pre T-cell antigen receptor alpha 1.016
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide 1.015
SPATS1 spermatogenesis associated, serine-rich 1 1.015
ASB7 ankyrin repeat and SOCS box containing 7 1.014
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide 1.014
NDST3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 1.013
VPS4B vacuolar protein sorting 4 homolog B (S. cerevisiae) 1.011
TLR4 toll-like receptor 4 1.008
MYH14 myosin, heavy chain 14, non-muscle 1.008
TSC2 tuberous sclerosis 2 1.005
PNPLA6 patatin-like phospholipase domain containing 6 1.003
NCAN neurocan 1.002
HGS hepatocyte growth factor-regulated tyrosine kinase substrate 1.002
ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 1.002
GOLIM4 golgi integral membrane protein 4 1.0