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: 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
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 Biomarker disease BEFREE Cyclin G-associated kinase is necessary for osteosarcoma cell proliferation and receptor trafficking. 20881269 2010
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 2010
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 Biomarker disease BEFREE Cyclin G-associated kinase is necessary for osteosarcoma cell proliferation and receptor trafficking. 20881269 2010
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 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: 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: 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 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 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 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 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 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 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: 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: 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: 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
CUI: C0392885
Disease: High density lipoprotein measurement
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: 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 GWASCAT Genomewide association study for susceptibility genes contributing to familial Parkinson disease. 18985386 2009
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018