Huntington Disease Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A neurodegenerative disease and an autosomal dominant disease that is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. (Human Disease Ontology, DOID_12858)
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Genes

58 genes associated with the Huntington Disease phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide
ADORA2A adenosine A2a receptor
ANKK1 ankyrin repeat and kinase domain containing 1
APOE apolipoprotein E
ATG16L1 autophagy related 16-like 1 (S. cerevisiae)
ATG3 autophagy related 3
ATG5 autophagy related 5
ATG7 autophagy related 7
ATN1 atrophin 1
ATXN1 ataxin 1
BDNF brain-derived neurotrophic factor
BECN1 beclin 1, autophagy related
C9ORF72 chromosome 9 open reading frame 72
CBS cystathionine-beta-synthase
CNR1 cannabinoid receptor 1 (brain)
COMT catechol-O-methyltransferase
CREBBP CREB binding protein
DMPK dystrophia myotonica-protein kinase
DRD2 dopamine receptor D2
DRD4 dopamine receptor D4
ERDA1 expanded repeat domain, CAG/CTG 1
FEN1 flap structure-specific endonuclease 1
FMR1 fragile X mental retardation 1
FTL ferritin, light polypeptide
GRIK2 glutamate receptor, ionotropic, kainate 2
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GSTO1 glutathione S-transferase omega 1
GSTO2 glutathione S-transferase omega 2
HAP1 huntingtin-associated protein 1
HDAC1 histone deacetylase 1
HIP1 huntingtin interacting protein 1
HTT huntingtin
JPH3 junctophilin 3
KALRN kalirin, RhoGEF kinase
LRRK2 leucine-rich repeat kinase 2
MAP2K6 mitogen-activated protein kinase kinase 6
MAP3K6 mitogen-activated protein kinase kinase kinase 6
MAPT microtubule-associated protein tau
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NPY neuropeptide Y
NPY1R neuropeptide Y receptor Y1
NPY2R neuropeptide Y receptor Y2
NPY5R neuropeptide Y receptor Y5
OGG1 8-oxoguanine DNA glycosylase
PEX7 peroxisomal biogenesis factor 7
POU3F2 POU class 3 homeobox 2
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PRNP prion protein
SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
STH saitohin
TBP TATA box binding protein
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
XPC xeroderma pigmentosum, complementation group C
ZDHHC17 zinc finger, DHHC-type containing 17