Neuronal Ceroid Lipofuscinosies Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1864670
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Genes

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

Symbol Name
AGER advanced glycosylation end product-specific receptor
APP amyloid beta (A4) precursor protein
ARSG arylsulfatase G
ATP13A2 ATPase type 13A2
ATP5G1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)
CALD1 caldesmon 1
CAPN3 calpain 3, (p94)
CAPN8 calpain 8
CLCN3 chloride channel, voltage-sensitive 3
CLCN6 chloride channel, voltage-sensitive 6
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
DPYSL2 dihydropyrimidinase-like 2
FBXL3 F-box and leucine-rich repeat protein 3
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
GRN granulin
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCTD7 potassium channel tetramerization domain containing 7
LGALS1 lectin, galactoside-binding, soluble, 1
MAPK13 mitogen-activated protein kinase 13
MAS1 MAS1 proto-oncogene, G protein-coupled receptor
MECP2 methyl CpG binding protein 2
MFSD8 major facilitator superfamily domain containing 8
NUCLEOLIN nucleolin multifunctional protein
PKD1 polycystic kidney disease 1 (autosomal dominant)
POLG polymerase (DNA directed), gamma
POU4F1 POU class 4 homeobox 1
PPP5C protein phosphatase 5, catalytic subunit
PPT1 palmitoyl-protein thioesterase 1
PPT2 palmitoyl-protein thioesterase 2
PRCD progressive rod-cone degeneration
PRPF6 pre-mRNA processing factor 6
PSAP prosaposin
SLC39A7 solute carrier family 39 (zinc transporter), member 7
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOD2 superoxide dismutase 2, mitochondrial
TAC1 tachykinin, precursor 1
TARDBP TAR DNA binding protein
TBCK TBC1 domain containing kinase
TFEB transcription factor EB
TMEM106B transmembrane protein 106B
TPP1 tripeptidyl peptidase I
TRPM1 transient receptor potential cation channel, subfamily M, member 1
ZDHHC15 zinc finger, DHHC-type containing 15