lipid storage disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. (Human Disease Ontology, DOID_9455)
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30 genes involed in the disease lipid storage disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ABHD5 abhydrolase domain containing 5
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)
CTSD cathepsin D
CTSF cathepsin F
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
GALC galactosylceramidase
GBA glucosidase, beta, acid
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GM2A GM2 ganglioside activator
GRN granulin
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
LIPA lipase A, lysosomal acid, cholesterol esterase
MFSD8 major facilitator superfamily domain containing 8
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
PPT1 palmitoyl-protein thioesterase 1
PSAP prosaposin
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SUMF1 sulfatase modifying factor 1
TPP1 tripeptidyl peptidase I