Ceroid Lipofuscinosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1834207
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ATP13A2 ATPase type 13A2
CAPN3 calpain 3, (p94)
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)
CPQ carboxypeptidase Q
CTSD cathepsin D
CTSF cathepsin F
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
FBXL3 F-box and leucine-rich repeat protein 3
FIS1 fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)
GFAP glial fibrillary acidic protein
GRN granulin
GSK3B glycogen synthase kinase 3 beta
HRAS Harvey rat sarcoma viral oncogene homolog
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
MFN1 mitofusin 1
MFSD8 major facilitator superfamily domain containing 8
NEFL neurofilament, light polypeptide
NUCLEOLIN nucleolin multifunctional protein
PARP1 poly (ADP-ribose) polymerase 1
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP5C protein phosphatase 5, catalytic subunit
PPT1 palmitoyl-protein thioesterase 1
PTPA protein phosphatase 2 phosphatase activator
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
SIRT1 sirtuin 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNCA synuclein, alpha (non A4 component of amyloid precursor)
STX6 syntaxin 6
STXBP1 syntaxin binding protein 1
SYP synaptophysin
TAC1 tachykinin, precursor 1
TFAM transcription factor A, mitochondrial
TPP1 tripeptidyl peptidase I