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 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
CUI: C0751772
Disease: REM Sleep Behavior Disorder
REM Sleep Behavior Disorder
0.010 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
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.010 GeneticVariation group BEFREE Although DNAJC6 (Auxilin), DNAJC12, and DNAJC5 (CSPα) exhibit strong genetic association with disease, DNAJC26 (GAK), DNAJC13 (RME-8), and DNAJC10 (Erdj5) require additional evidence to definitively link reported variants to parkinsonism. 31120186 2019
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.100 GeneticVariation phenotype GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
High density lipoprotein measurement
0.100 GeneticVariation phenotype GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.040 Biomarker disease BEFREE We demonstrated that the host kinases AAK1 and GAK regulate HCV infection by controlling these clathrin-associated APs. 29535204 2018
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: C0019196
Disease: Hepatitis C
Hepatitis C
0.040 Biomarker disease BEFREE We previously reported that AAK1 and GAK, kinase regulators of the host adaptor proteins AP1 and AP2, are essential for hepatitis C virus (HCV) infection, but the underlying mechanism and relevance to other viruses or in vivo infections remained unknown. 28240606 2017
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 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 GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 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: C0019196
Disease: Hepatitis C
Hepatitis C
0.040 Biomarker disease BEFREE AP-2-associated protein kinase 1 and cyclin G-associated kinase regulate hepatitis C virus entry and are potential drug targets. 25653444 2015
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: 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 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 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 GAK rs1564282 and DGKQ rs11248060 increase the risk for PD in Chinese patients. 23618683 2013
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.040 Biomarker disease BEFREE Furthermore, AAK1 and GAK, serine/threonine kinases known to stimulate binding of AP2M1 to host cargo proteins, regulate core-AP2M1 binding and are essential for HCV assembly. 22916011 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: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.100 GeneticVariation phenotype 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
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 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