GAK, cyclin G associated kinase, 2580

N. diseases: 13; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE This gene is closely related to GAK, identified as a possible PD susceptibility gene in the GWAS of the familial PD cases. 19772629 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease GWASCAT Genomewide association study for susceptibility genes contributing to familial Parkinson disease. 18985386 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease GWASCAT Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. 20711177 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease CTD_human Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. 20711177 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease GWASDB Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. 20711177 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE Besides, post-hoc analysis confirmed GAK/DGKQ, HLA and MAPT as PD risk loci among the Dutch (GAK/DGKQ, rs2242235: P = 1.22 × 10(-4), OR = 1.51; HLA, rs4248166: P = 4.39 × 10(-5), OR = 1.36; and MAPT, rs3785880: P = 1.9 × 10(-3), OR = 1.19). 21248740 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE While MAPT has been considered a PD candidate gene and has been observed in association with PD in other GWAS, GAK is a new candidate for investigation in future studies. 21058943 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease GWASDB Cyclin-G-associated kinase modifies α-synuclein expression levels and toxicity in Parkinson's disease: results from the GenePD Study. 21258085 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE These observations provide evidence that GAK is associated with PD risk and suggest that GAK and α-synuclein interact in a pathway involved in PD pathogenesis. 21258085 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE Functional studies of GAK to unravel its role in the pathophysiologic pathway of PD will be useful. 22198721 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease GWASDB Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. 22438815 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE In conclusion, our results supported the association between the rs11248051 variant in GAK and PD risk in a Taiwanese population. 24039160 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE GAK rs1564282 and DGKQ rs11248060 increase the risk for PD in Chinese patients. 23618683 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE The single-nucleotide polymorphism (SNP) rs1564282 of GAK gene has a significant association to the risk of PD among Caucasian populations. 23826309 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE Genome-wide association studies identified PARK16 variants rs823128 and rs947211, PARK17/GAK rs11248051 and PARK18/HLA-DRA rs3129882 as risk factors for Parkinson's disease (PD). 24373818 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE Together, these findings provide strong evidence for GAK clathrin-binding- and J-domain transcripts' influence on PD pathogenicity, and for a role for GAK in regulating synaptic function in PD. 27508417 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE We used 2 PD case-control data sets (Washington University and the Parkinson's Progression Markers Initiative) to determine whether polymorphisms located at the GWAS top hits (GBA, ACMSD/TMEM163, STK39, MCCC1/LAMP3, GAK/TMEM175, SNCA, and MAPT) show association with AAO or motor progression. 26601739 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE Cyclin-G-associated kinase (GAK), a PD susceptibility gene identified through genome-wide association studies (GWAS), is a ubiquitous serine/threonine kinase involved in clathrin uncoating, though its PD-related function remains elusive. 28147270 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE We describe recent advances on roles of kinases TAOK2, TNIK and CDKL5 in neuronal development and the converging pathways of LRRK2, PINK1 and GAK in Parkinson's Disease. 29241837 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE Full sequencing of TMEM175/GAK/DGKQ followed by genotyping of specific associated variants was performed in PD (n = 1,575) and rapid eye movement sleep behavior disorder (RBD) patients (n = 533) and in controls (n = 1,583). 31658403 2020