generalized dystonia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A dystonia that affects most or all of the body. (Human Disease Ontology, DOID_0050835)
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Genes

95 genes co-occuring with the disease generalized dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
CAMP cathelicidin antimicrobial peptide 2.51952
TOR1A torsin family 1, member A (torsin A) 2.18818
THAP1 THAP domain containing, apoptosis associated protein 1 2.0581
GCH1 GTP cyclohydrolase 1 2.00974
OMD osteomodulin 1.6525
HCAR1 hydroxycarboxylic acid receptor 1 1.50096
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide 1.49657
AK1 adenylate kinase 1 1.4755
ASS1 argininosuccinate synthase 1 1.44518
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator 1.40089
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) 1.36466
SGCE sarcoglycan, epsilon 1.35899
TAF1L TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1.30969
HS1BP3 HCLS1 binding protein 3 1.24776
CAT catalase 1.2356
MECR mitochondrial trans-2-enoyl-CoA reductase 1.18324
PNKD paroxysmal nonkinesigenic dyskinesia 1.08957
TSR2 TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) 1.05976
PTS 6-pyruvoyltetrahydropterin synthase 1.05765
SOD2 superoxide dismutase 2, mitochondrial 0.996549
MYOM1 myomesin 1 0.975903
DRD5 dopamine receptor D5 0.974642
BCO1 beta-carotene oxygenase 1 0.973801
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 0.947435
ZFYVE1 zinc finger, FYVE domain containing 1 0.937459
LEO1 Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 0.937459
CDIP1 cell death-inducing p53 target 1 0.928346
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 0.919673
KEL Kell blood group, metallo-endopeptidase 0.910199
GRIN3B glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 0.899514
SON SON DNA binding protein 0.880653
TSR1 TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 0.879014
GRIN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 0.870415
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 0.865502
PVALB parvalbumin 0.854449
DRD3 dopamine receptor D3 0.84585
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 0.804026
GSN gelsolin 0.798282
RFXANK regulatory factor X-associated ankyrin-containing protein 0.747204
AFG3L2 AFG3-like AAA ATPase 2 0.743547
AADAT aminoadipate aminotransferase 0.733001
LMX1B LIM homeobox transcription factor 1, beta 0.726929
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 0.705949
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 0.701526
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 0.701124
CCBL1 cysteine conjugate-beta lyase, cytoplasmic 0.700321
TH tyrosine hydroxylase 0.647348
SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 0.646559
GSR glutathione reductase 0.63907
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 0.60342
DYNLRB1 dynein, light chain, roadblock-type 1 0.59874
HM13 histocompatibility (minor) 13 0.566443
PPP1R1B protein phosphatase 1, regulatory (inhibitor) subunit 1B 0.541992
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 0.500761
RGS2 regulator of G-protein signaling 2 0.500379
MNT MAX network transcriptional repressor 0.482844
B4GALNT2 beta-1,4-N-acetyl-galactosaminyl transferase 2 0.479047
HLA-DRB4 major histocompatibility complex, class II, DR beta 4 0.472225
CADM1 cell adhesion molecule 1 0.463905
ZNF77 zinc finger protein 77 0.457864
HLA-DRB5 major histocompatibility complex, class II, DR beta 5 0.452208
MRPL49 mitochondrial ribosomal protein L49 0.450701
BBS1 Bardet-Biedl syndrome 1 0.424389
PANK2 pantothenate kinase 2 0.42364
ACHE acetylcholinesterase (Yt blood group) 0.416147
CP ceruloplasmin (ferroxidase) 0.414276
DAND5 DAN domain family member 5, BMP antagonist 0.409414
CLCN1 chloride channel, voltage-sensitive 1 0.409414
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 0.404557
TOX thymocyte selection-associated high mobility group box 0.401945
CALB2 calbindin 2 0.399334
VIM vimentin 0.389653
RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis) 0.387051
MAOA monoamine oxidase A 0.385193
PER1 period circadian clock 1 0.36741
CNR1 cannabinoid receptor 1 (brain) 0.36741
SRCIN1 SRC kinase signaling inhibitor 1 0.335778
ANO1 anoctamin 1, calcium activated chloride channel 0.335046
HTT huntingtin 0.333583
BDNF brain-derived neurotrophic factor 0.331756
LAMB2 laminin, beta 2 (laminin S) 0.304503
NKX2-1 NK2 homeobox 1 0.304142
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 0.297291
MGP matrix Gla protein 0.287235
MAOB monoamine oxidase B 0.278654
COMT catechol-O-methyltransferase 0.27687
DRD4 dopamine receptor D4 0.254888
PER3 period circadian clock 3 0.250311
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) 0.241196
CHAT choline O-acetyltransferase 0.240847
LIG3 ligase III, DNA, ATP-dependent 0.208245
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) 0.184424
CRH corticotropin releasing hormone 0.182666
HSPG2 heparan sulfate proteoglycan 2 0.181798
NRG1 neuregulin 1 0.180937