lysosomal storage disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. (Human Disease Ontology, DOID_3211)
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Genes

49 genes involed in the disease lysosomal storage disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ABHD5 abhydrolase domain containing 5
AGA aspartylglucosaminidase
ARSA arylsulfatase A
ARSB arylsulfatase B
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATP13A2 ATPase type 13A2
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CTNS cystinosin, lysosomal cystine transporter
CTSD cathepsin D
CTSF cathepsin F
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
FUCA1 fucosidase, alpha-L- 1, tissue
GALC galactosylceramidase
GALNS galactosamine (N-acetyl)-6-sulfatase
GBA glucosidase, beta, acid
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GM2A GM2 ganglioside activator
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNS glucosamine (N-acetyl)-6-sulfatase
GRN granulin
GUSB glucuronidase, beta
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HYAL1 hyaluronoglucosaminidase 1
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
LAMP2 lysosomal-associated membrane protein 2
LIPA lipase A, lysosomal acid, cholesterol esterase
MAN2B1 mannosidase, alpha, class 2B, member 1
MANBA mannosidase, beta A, lysosomal
MCOLN1 mucolipin 1
MFSD8 major facilitator superfamily domain containing 8
NAGLU N-acetylglucosaminidase, alpha
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
PPT1 palmitoyl-protein thioesterase 1
PSAP prosaposin
SGSH N-sulfoglucosamine sulfohydrolase
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SUMF1 sulfatase modifying factor 1
TPP1 tripeptidyl peptidase I
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