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 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 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: 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 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 demonstrated that the host kinases AAK1 and GAK regulate HCV infection by controlling these clathrin-associated APs. 29535204 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: 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: 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: 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