Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 Biomarker disease BEFREE α-Synuclein (ASN) and parkin, a multifunctional E3 ubiquitin ligase, are two proteins that are associated with the pathophysiology of Parkinson's disease (PD). 29681024 2019
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 GeneticVariation disease BEFREE Mutations in the E3 ubiquitin ligase parkin are the most common known cause of autosomal recessive Parkinson's disease (PD), and parkin depletion may play a role in sporadic PD. 31406131 2019
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 Biomarker disease BEFREE Dysregulation of mitophagy, whereby damaged mitochondria are labeled for degradation by the mitochondrial kinase PINK1 and E3 ubiquitin ligase Parkin with phosphorylated ubiquitin chains (p-S65 ubiquitin), may contribute to neurodegeneration in Parkinson's disease. 31801089 2019
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 Biomarker disease BEFREE Here we found that a E3 ubiquitin ligase Peli1 is dramatically induced only in the substantia nigra (SN) of the human and mouse PD brains. 31142803 2019
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 Biomarker disease BEFREE Parkin is an E3 ubiquitin ligase involved in Parkinson's disease (PD). 30074231 2019
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 AlteredExpression disease BEFREE Ring finger protein 146 (RNF146) is an E3 ubiquitin ligase whose activity prevents poly (ADP-ribose) polymerase 1 (PARP1)-dependent neurodegeneration in Parkinson's disease (PD). 30974833 2019
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 GeneticVariation disease BEFREE Parkinson's disease (PD)-associated E3 ubiquitin ligase Parkin is enriched at glutamatergic synapses, where it ubiquitinates multiple substrates, suggesting that its mutation/loss-of-function could contribute to the etiology of PD by disrupting excitatory neurotransmission. 30200940 2018
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 GeneticVariation disease BEFREE Parkin encodes an E3 ubiquitin ligase, and mutations affecting its catalytic potential are implicated in autosomal recessive Parkinson's disease (PD). 29223129 2018
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 Biomarker disease BEFREE Parkin, an E3 ubiquitin ligase and a Parkinson's disease (PD) related gene, translocates to impaired mitochondria and drives their elimination via autophagy, a process known as mitophagy. 30219582 2018
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 Biomarker disease BEFREE Parkin functions as a multipurpose E3 ubiquitin ligase, and Parkin loss of function is associated with both sporadic and familial Parkinson's disease (PD). 29987020 2018
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 GeneticVariation disease BEFREE Parkin (PARK2) is an E3 ubiquitin ligase that is commonly mutated in Familial Parkinson's Disease (PD). 28399880 2017
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 Biomarker disease BEFREE Parkin, a tumor suppressor and Parkinson's disease (PD) associated gene, is an E3 ubiquitin ligase crucial for mitophagy. 27148961 2017
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 Biomarker disease BEFREE Mitochondrial kinase PTEN-induced putative kinase 1 (PINK1) and E3 ubiquitin ligase Parkin function in a common pathway to regulate mitochondrial homeostasis contributing to the pathogenesis of Parkinson disease. 28778978 2017
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 GeneticVariation disease BEFREE Mutations in E3 ubiquitin ligase Parkin have been linked to familial Parkinson's disease. 29180628 2017
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 Biomarker disease BEFREE The identifications of mutations in genes encoding PINK1 (PTEN-induced kinase 1) and Parkin (E3 ubiquitin ligase) in familial PD and their functional association with mitochondrial quality control provided further support to this hypothesis. 27911343 2017
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 Biomarker disease BEFREE Parkin is an E3 ubiquitin ligase originally characterized in the pathogenesis of Parkinson disease; however, its potential role in acute inflammatory processes and lung EC function remains largely unknown. 27693468 2017
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 Biomarker disease BEFREE PARK2 encodes for the E3 ubiquitin ligase parkin and is implicated in the development of Parkinson's disease (PD). 28656059 2017
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 GeneticVariation disease BEFREE Parkin (which encoded by Park2), an E3 ubiquitin ligase, is the most frequently mutated gene that has casually been linked to autosomal recessive early onset familial PD. 28086194 2017
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 Biomarker disease BEFREE Parkin, an E3 ubiquitin ligase, has been studied extensively in all major protein misfolding aggregating diseases, especially Parkinson's disease and Alzheimer's disease, but the role of parkin in TSEs remains unknown. 27430567 2017
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 Biomarker disease BEFREE The Parkinson's disease (PD)-related protein F-box only protein 7 (Fbxo7) is the substrate-recognition component of the Skp1-Cullin-F-box protein E3 ubiquitin ligase complex. 27689878 2017
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 GeneticVariation disease BEFREE Parkin, an E3 ubiquitin ligase, is the most frequently mutated gene in hereditary Parkinson's disease. 29138676 2017
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 GeneticVariation disease BEFREE Parkin, an E3 ubiquitin ligase, is the most frequently mutated gene in hereditary Parkinson's disease. 28169962 2017
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 Biomarker disease BEFREE These findings provide a molecular mechanism of how Parkin recruitment to the mitochondria and Parkin activation as an E3 ubiquitin ligase are regulated by PINK1 and explain the previously unknown mechanism of how Parkin mutations in the UBL domain cause PD pathogenesis. 26631732 2016
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 Biomarker disease BEFREE Parkinson's Disease (PD) related genes PINK1, a protein kinase [1], and Parkin, an E3 ubiquitin ligase [2], operate within the same pathway [3-5], which controls, via specific elimination of dysfunctional mitochondria, the quality of the organelle network [6]. 26517048 2016
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.100 GeneticVariation disease BEFREE Mutations in the genes encoding the mitochondrial kinase PINK1 and the E3 ubiquitin ligase Parkin cause autosomal recessive Parkinson's disease (PD). 27251035 2016