neuronal ceroid lipofuscinosis Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. (Orphanet Rare Disease Ontology, Orphanet_216)
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12 genes involed in the disease neuronal ceroid lipofuscinosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
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
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
GRN granulin
MFSD8 major facilitator superfamily domain containing 8
PPT1 palmitoyl-protein thioesterase 1
TPP1 tripeptidyl peptidase I