Mucolipidosis Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0020725
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Genes

77 genes associated with the disease Mucolipidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
APOB apolipoprotein B
APRT adenine phosphoribosyltransferase
CALCR calcitonin receptor
CALR calreticulin
CCL2 chemokine (C-C motif) ligand 2
CHIT1 chitinase 1 (chitotriosidase)
CRTC1 CREB regulated transcription coactivator 1
CTSA cathepsin A
CTSD cathepsin D
CTSK cathepsin K
CTSL cathepsin L
CXCL2 chemokine (C-X-C motif) ligand 2
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
DHCR7 7-dehydrocholesterol reductase
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DSCAML1 Down syndrome cell adhesion molecule like 1
EGFL7 EGF-like-domain, multiple 7
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
EPHA3 EPH receptor A3
ERBB2 erb-b2 receptor tyrosine kinase 2
ESA4 esterase A4
FLG filaggrin
FUCA2 fucosidase, alpha-L- 2, plasma
GADD45A growth arrest and DNA-damage-inducible, alpha
GAST gastrin
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GLB1 galactosidase, beta 1
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GUSB glucuronidase, beta
HEXA hexosaminidase A (alpha polypeptide)
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSPA14 heat shock 70kDa protein 14
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IGF2R insulin-like growth factor 2 receptor
IL1B interleukin 1, beta
IL22 interleukin 22
IL23R interleukin 23 receptor
IL6 interleukin 6
IL6R interleukin 6 receptor
LAMP3 lysosomal-associated membrane protein 3
LIF leukemia inhibitory factor
LMNA lamin A/C
LSAMP limbic system-associated membrane protein
MBTPS1 membrane-bound transcription factor peptidase, site 1
MCOLN1 mucolipin 1
MCOLN2 mucolipin 2
MCOLN3 mucolipin 3
MFAP1 microfibrillar-associated protein 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
NEB nebulin
NEU1 sialidase 1 (lysosomal sialidase)
NEURL1 neuralized E3 ubiquitin protein ligase 1
NPPB natriuretic peptide B
NQO1 NAD(P)H dehydrogenase, quinone 1
OGA O-GlcNAcase
PIM1 Pim-1 proto-oncogene, serine/threonine kinase
PKD2 polycystic kidney disease 2 (autosomal dominant)
PLAT plasminogen activator, tissue
PLCD1 phospholipase C, delta 1
PLCG1 phospholipase C, gamma 1
RYR2 ryanodine receptor 2 (cardiac)
SLC30A3 solute carrier family 30 (zinc transporter), member 3
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLN sarcolipin
TBPL1 TBP-like 1
TFEB transcription factor EB
TMEM163 transmembrane protein 163
TNF tumor necrosis factor
TYRP1 tyrosinase-related protein 1
WDR26 WD repeat domain 26