Stiff-Person Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A movement disease that is of unknown etiology characterized by progressive rigidity. (Human Disease Ontology, DOID_13366)
External Link https://www.disgenet.org/browser/0/1/0/C0085292
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Genes

33 genes associated with the disease Stiff-Person Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AMPH amphiphysin
APOH apolipoprotein H (beta-2-glycoprotein I)
ATXN3 ataxin 3
BDNF brain-derived neurotrophic factor
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DPYSL5 dihydropyrimidinase-like 5
GABARAP GABA(A) receptor-associated protein
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
GAS6 growth arrest-specific 6
GLRA1 glycine receptor, alpha 1
GLUL glutamate-ammonia ligase
GP6 glycoprotein VI (platelet)
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
INS insulin
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NUDT10 nudix (nucleoside diphosphate linked moiety X)-type motif 10
OPRL1 opiate receptor-like 1
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PEAR1 platelet endothelial aggregation receptor 1
PLA2G1B phospholipase A2, group IB (pancreas)
PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLG plasminogen
PNOC prepronociceptin
POU2F3 POU class 2 homeobox 3
SEPHS1 selenophosphate synthetase 1
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLC7A10 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10
SMS spermine synthase
TBX4 T-box 4
TRAK1 trafficking protein, kinesin binding 1