GAK, cyclin G associated kinase, 2580

N. diseases: 13; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564282
rs1564282
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0030567
Disease:
Parkinson Disease
0.870 GeneticVariation BEFREE In summary, we confirmed that Rep1, rs356165, and rs11931074 in SNCA gene, G2385R in LRRK2 gene, rs4698412 in BST1 gene, rs1564282 in PARK17, and L444P in GBA gene have an independent and combined significant association with PD. 25623333 2015
dbSNP: rs1564282
rs1564282
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0030567
Disease:
Parkinson Disease
0.870 GeneticVariation BEFREE This meta-analysis suggests that GAK rs1564282 C/T polymorphism is associated with increased susceptibility to PD. 25975492 2015
dbSNP: rs1564282
rs1564282
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0030567
Disease:
Parkinson Disease
0.870 GeneticVariation BEFREE GAK rs1564282 and DGKQ rs11248060 increase the risk for PD in Chinese patients. 23618683 2013
dbSNP: rs1564282
rs1564282
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0030567
Disease:
Parkinson Disease
0.870 GeneticVariation BEFREE The results showed that neither the CT, TT genotypes nor the minor allele T of SNP rs1564282 were associated with PD among the subjects from Taiwan and Singapore as well as in the pooled analysis. 23826309 2013
dbSNP: rs1564282
rs1564282
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0030567
Disease:
Parkinson Disease
0.870 GeneticVariation BEFREE We observed no association between PD risk and GAK rs1564282 or HLA-DRA rs3129882 variant. 24039160 2013
dbSNP: rs1564282
rs1564282
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0030567
Disease:
Parkinson Disease
0.870 GeneticVariation GWASDB Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. 22438815 2012
dbSNP: rs1564282
rs1564282
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0030567
Disease:
Parkinson Disease
0.870 GeneticVariation BEFREE In conclusion, we demonstrated that the rs1564282 variant in GAK (PARK17) increases the risk of PD in Han Chinese patients from mainland China and the meta-analysis with European populations revealed a similar finding. 22198721 2012
dbSNP: rs1564282
rs1564282
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0030567
Disease:
Parkinson Disease
0.870 GeneticVariation GWASDB Microarray expression analysis of post-mortem frontal cortex from PD and control brains demonstrates a significant association between rs1564282 and higher α-synuclein expression, a known cause of early onset PD. 21258085 2011
dbSNP: rs1564282
rs1564282
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0030567
Disease:
Parkinson Disease
0.870 GeneticVariation BEFREE Microarray expression analysis of post-mortem frontal cortex from PD and control brains demonstrates a significant association between rs1564282 and higher α-synuclein expression, a known cause of early onset PD. 21258085 2011
dbSNP: rs1564282
rs1564282
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0030567
Disease:
Parkinson Disease
T 0.870 GeneticVariation GWASCAT Genomewide association study for susceptibility genes contributing to familial Parkinson disease. 18985386 2009
dbSNP: rs11248051
rs11248051
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0030567
Disease:
Parkinson Disease
0.820 GeneticVariation BEFREE Genetic interaction analysis revealed that subjects simultaneously carrying the T allele (TC or TT) of rs11248051 and the A allele (AG or AA) of rs3129882 had an aggravated risk (OR 1.91; p=0.016) of PD. 24373818 2014
dbSNP: rs11248051
rs11248051
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0030567
Disease:
Parkinson Disease
0.820 GeneticVariation BEFREE In conclusion, our results supported the association between the rs11248051 variant in GAK and PD risk in a Taiwanese population. 24039160 2013
dbSNP: rs11248051
rs11248051
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0030567
Disease:
Parkinson Disease
T 0.820 GeneticVariation GWASCAT Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. 20711177 2010
dbSNP: rs11248051
rs11248051
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0030567
Disease:
Parkinson Disease
T 0.820 GeneticVariation GWASDB Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. 20711177 2010
dbSNP: rs11248051
rs11248051
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0392885
Disease:
High density lipoprotein measurement
T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs1564282
rs1564282
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0202236
Disease:
Triglycerides measurement
T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs4690203
rs4690203
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs35541465
rs35541465
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0030567
Disease:
Parkinson Disease
0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs3775121
rs3775121
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0200635
Disease:
Lymphocyte Count measurement
0.700 GeneticVariation GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
dbSNP: rs748055361
rs748055361
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE Two coding variants, TMEM175 p.M393T (odds ratio [OR] = 1.37, p = 0.0003) and p.Q65P (OR = 0.72, p = 0.005), were associated with PD, and p.M393T was also associated with RBD (OR = 1.59, p = 0.001). 31658403 2020
dbSNP: rs748055361
rs748055361
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0751772
Disease:
REM Sleep Behavior Disorder
0.010 GeneticVariation BEFREE Two coding variants, TMEM175 p.M393T (odds ratio [OR] = 1.37, p = 0.0003) and p.Q65P (OR = 0.72, p = 0.005), were associated with PD, and p.M393T was also associated with RBD (OR = 1.59, p = 0.001). 31658403 2020
dbSNP: rs1564282
rs1564282
Entrez Id: 2580
Gene Symbol: GAK
GAK
CUI: C0040822
Disease:
Tremor
0.010 GeneticVariation 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