lysosomal storage disease Gene Set

Dataset DISEASES Experimental 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

8 genes associated with the disease lysosomal storage disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
SGPP1 sphingosine-1-phosphate phosphatase 1 2.39414
CERS4 ceramide synthase 4 1.64122
ATP10D ATPase, class V, type 10D 1.29434
SPTLC3 serine palmitoyltransferase, long chain base subunit 3 1.03105
FADS3 fatty acid desaturase 3 0.905535
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 0.256228
ADRB1 adrenoceptor beta 1 0.197766
NTRK3 neurotrophic tyrosine kinase, receptor, type 3 0.064973