Lafora Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_3534)
External Link https://www.disgenet.org/browser/0/1/0/C0751783
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Genes

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

Symbol Name
ACHE acetylcholinesterase (Yt blood group)
ACP1 acid phosphatase 1, soluble
AMY2A amylase, alpha 2A (pancreatic)
APOE apolipoprotein E
AR androgen receptor
ATP13A2 ATPase type 13A2
BCHE butyrylcholinesterase
BCKDK branched chain ketoacid dehydrogenase kinase
BCL2L13 BCL2-like 13 (apoptosis facilitator)
BDNF brain-derived neurotrophic factor
CASP2 caspase 2, apoptosis-related cysteine peptidase
CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN5 ceroid-lipofuscinosis, neuronal 5
CRMP1 collapsin response mediator protein 1
CST3 cystatin C
CSTB cystatin B (stefin B)
CTSD cathepsin D
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
DAPK2 death-associated protein kinase 2
DCP1A decapping mRNA 1A
DCTN4 dynactin 4 (p62)
DENR density-regulated protein
DNAJC13 DnaJ (Hsp40) homolog, subfamily C, member 13
DNM1L dynamin 1-like
DSP desmoplakin
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
EPM2AIP1 EPM2A (laforin) interacting protein 1
FGFR3 fibroblast growth factor receptor 3
GBA glucosidase, beta, acid
GFAP glial fibrillary acidic protein
GLUL glutamate-ammonia ligase
GRK2 G protein-coupled receptor kinase 2
GRK5 G protein-coupled receptor kinase 5
GRN granulin
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
GYG1 glycogenin 1
HIPK2 homeodomain interacting protein kinase 2
HSF1 heat shock transcription factor 1
HSP90B1 heat shock protein 90kDa beta (Grp94), member 1
HSPA4 heat shock 70kDa protein 4
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
INSRR insulin receptor-related receptor
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMP1 lysosomal-associated membrane protein 1
LAMP2 lysosomal-associated membrane protein 2
LMTK2 lemur tyrosine kinase 2
LOC101060233 medium-wave-sensitive opsin 1
LRRK2 leucine-rich repeat kinase 2
MAP1LC3A microtubule-associated protein 1 light chain 3 alpha
MAPT microtubule-associated protein tau
MECP2 methyl CpG binding protein 2
MINOS1-NBL1 MINOS1-NBL1 readthrough
MUL1 mitochondrial E3 ubiquitin protein ligase 1
NBL1 neuroblastoma 1, DAN family BMP antagonist
NFU1 NFU1 iron-sulfur cluster scaffold
NGF nerve growth factor (beta polypeptide)
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NNAT neuronatin
NUP62 nucleoporin 62kDa
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PARN poly(A)-specific ribonuclease
PFKL phosphofructokinase, liver
PPP1R3B protein phosphatase 1, regulatory subunit 3B
PPP1R3C protein phosphatase 1, regulatory subunit 3C
PTEN phosphatase and tensin homolog
PVALB parvalbumin
RMDN1 regulator of microtubule dynamics 1
RMDN2 regulator of microtubule dynamics 2
RMDN3 regulator of microtubule dynamics 3
SCN1A sodium channel, voltage gated, type I alpha subunit
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNCB synuclein, beta
SNCG synuclein, gamma (breast cancer-specific protein 1)
SQSTM1 sequestosome 1
STX1B syntaxin 1B
SYBU syntabulin (syntaxin-interacting)
TARDBP TAR DNA binding protein
TPP1 tripeptidyl peptidase I
TRIM32 tripartite motif containing 32
TTR transthyretin
UTRN utrophin
VCP valosin containing protein
ZNF645 zinc finger protein 645