GAK, cyclin G associated kinase, 2580

N. diseases: 4; N. variants: 3
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 GeneticVariation disease GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2017
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 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
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 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 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE Reaffirmation of GAK, but not HLA-DRA, as a Parkinson's disease susceptibility gene in a Taiwanese population. 24039160 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE GAK rs1564282 and DGKQ rs11248060 increase the risk for Parkinson's disease in a Chinese population. 23618683 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE GWAS-linked GAK locus in Parkinson's disease in Han Chinese and meta-analysis. 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 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 AlteredExpression disease BEFREE 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 GeneticVariation disease GWASDB This, combined with GAK's observed relationship to the levels of α-synuclein expression and toxicity, suggests that the protein is an attractive therapeutic target for the treatment of PD. 21258085 2011
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 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 GeneticVariation disease GWASDB We report a genome-wide significant association (P = 3.97 × 10(-8)) between a polymorphism, rs1564282, in the cyclin-G-associated kinase (GAK) gene and increased PD risk, with a meta-analysis odds ratio of 1.48. 21258085 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease GWASDB 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 GeneticVariation disease GWASDB Furthermore, knockdown of GAK in rat primary neurons expressing the A53T mutation of α-synuclein, a well-established model for PD, decreases cell viability. 21258085 2011
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 GWASCAT These data suggest the identification of new susceptibility alleles for PD in the GAK/DGKQ region, and also provide further support for the role of SNCA and MAPT in PD susceptibility. 18985386 2009
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: C0040822
Disease: Tremor
Tremor
0.010 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
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 Biomarker disease BEFREE Cyclin G-associated kinase is necessary for osteosarcoma cell proliferation and receptor trafficking. 20881269 2011
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
0.010 AlteredExpression disease BEFREE Cyclin G-associated kinase: a novel androgen receptor-interacting transcriptional coactivator that is overexpressed in hormone refractory prostate cancer. 16161052 2006