Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
0.400 Biomarker phenotype CTD_human Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency. 17368676 2007
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
0.400 Biomarker phenotype HPO
Entrez Id: 347
Gene Symbol: APOD
APOD
0.300 Biomarker phenotype CTD_human Apolipoprotein D mediates autocrine protection of astrocytes and controls their reactivity level, contributing to the functional maintenance of paraquat-challenged dopaminergic systems. 21688324 2011
Entrez Id: 4987
Gene Symbol: OPRL1
OPRL1
0.300 Biomarker phenotype CTD_human Further evidence for an involvement of nociceptin/orphanin FQ in the pathophysiology of Parkinson's disease: a behavioral and neurochemical study in reserpinized mice. 20950413 2010
Entrez Id: 7054
Gene Symbol: TH
TH
0.130 AlteredExpression phenotype BEFREE As a result, 6-hydroxydopamine could lead to PD-like lesions, including tremor, stiffness, attenuated spontaneous activity, and bradykinesia in mice, and the expression of tyrosine hydroxylase in the striatum was decreased. 31359520 2019
Entrez Id: 7054
Gene Symbol: TH
TH
0.130 Biomarker phenotype BEFREE In aged rats, increased TH expression and DA in SN alone increases movement frequency, suggesting aging-related TH and DA loss in the SN contributes to aging-related bradykinesia or decreased physical activity. 30056575 2019
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.130 Biomarker phenotype BEFREE Urinary dysfunction in untreated PD is related with increase in motor symptoms (especially bradykinesia and axial symptoms) and reduction of striatal DAT availability. 29449184 2018
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.130 Biomarker phenotype BEFREE To enroll PD subjects as early as possible following diagnosis, subjects were eligible with only asymmetric bradykinesia or tremor plus a dopamine transporter (DAT) binding deficit on SPECT imaging. 30564614 2018
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.130 Biomarker phenotype BEFREE The left CR score was associated with left arm bradykinesia and rigidity scores and DAT uptake in the right posterior putamen, whereas no such associations were found for the right CR score. 29971496 2018
Entrez Id: 7054
Gene Symbol: TH
TH
0.130 Biomarker phenotype BEFREE Aging studies report little to moderate loss of striatal dopamine (DA) or tyrosine hydroxylase (TH) in nigrostriatal terminals, in contrast to ~70%-80% loss associated with bradykinesia onset in Parkinson's disease. 28637176 2017
Entrez Id: 7054
Gene Symbol: TH
TH
0.130 Biomarker phenotype HPO
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.130 Biomarker phenotype HPO
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.120 AlteredExpression phenotype BEFREE Analysing MAPT alternative splicing, the expression of 1N/4R isoform was inversely associated with global parkinsonism (p = 0.008) and bradykinesia (p = 0.008). 27458716 2016
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.120 GeneticVariation phenotype BEFREE The clinical features of LRRK2-associated with PD in our patients were similar to those of idiopathic PD although most LRRK2 mutated patients presented with bradykinesia instead of tremor; 33.3% developed dementia. 23963289 2014
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.120 GeneticVariation phenotype BEFREE Based on motor Unified Parkinson's Disease Rating Scale subscores, MAPT (P = .0002) and CCDC62 (P = .003) were predominantly associated with bradykinesia, and we further discovered associations between SREBF1 (rs11868035; P = .005) and gait impairment, SNCA (rs356220; P = .04) and rigidity, and GAK (rs1564282; P = .03) and tremor. 24514572 2014
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.120 GeneticVariation phenotype BEFREE More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and balance disturbances (p = 0.008), while more GBA mutation carriers reported slowness (bradykinesia, p = 0.021). 19458969 2010
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.120 Biomarker phenotype HPO
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.120 Biomarker phenotype HPO
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.110 GeneticVariation phenotype BEFREE Here, we report a 37-year-old male Korean patient carrying a PSEN1 p.Gly417Ala mutation with exceptionally early and severe presentations, including a wide range of atypical symptoms of rapid cognitive decline with a stooped posture, rigidity, and bradykinesia. 30180983 2018
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
0.110 Biomarker phenotype BEFREE Parkinson disease (PD) is neurodegenerative disorder characterized by tremor, rigidity and bradykinesia and pathologically by the deposition of alpha-synuclein within different tissues. 28582870 2017
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
0.110 Biomarker phenotype BEFREE In SCA3 the common EPS were bradykinesia (44.4%), staring look, postural tremor and dystonia (33.3% each), and reduced facial expression and rigidity (22.2% each). 24602359 2014
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1
0.110 GeneticVariation phenotype BEFREE In SCA1, staring look was the most common (53.3%), followed by dystonia and bradykinesia (33.3% each), and postural tremor (26.7%). 24602359 2014
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.110 AlteredExpression phenotype BEFREE The association between FMR1 mRNA level and bradykinesia implicates pathophysiological mechanisms which may link FMR1 mRNA toxicity, dopamine deficiency and parkinsonism in FXTAS. 24491663 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.110 GeneticVariation phenotype CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961 2014
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.110 GeneticVariation phenotype BEFREE More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and balance disturbances (p = 0.008), while more GBA mutation carriers reported slowness (bradykinesia, p = 0.021). 19458969 2010