CBLL2, Cbl proto-oncogene like 2, 158506

N. diseases: 235; N. variants: 0
Disease: Parkinson Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Parkin (PARK2) is an E3 ubiquitin ligase that is commonly mutated in Familial Parkinson's Disease (PD). 28399880 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE The E3 ubiquitin ligase Parkin targets several proteins for UPS degradation, and Parkin mutations are the major cause of autosomal recessive Parkinson's disease. 19610108 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Mutations in Parkin, an E3 ubiquitin ligase, are associated to autosomal recessive Parkinson's disease (PD). 25728007 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Mutations in the E3 ubiquitin ligase Parkin have been linked to familial Parkinson's disease. 26387737 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Mutations of parkin, an E3 ubiquitin ligase that strongly binds to microtubules, are the most frequent cause of recessively inherited PD. 25332110 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Loss-of-function mutations in PARK2, the gene encoding the E3 ubiquitin ligase Parkin, are the most frequent cause of recessive Parkinson's disease (PD). 24852371 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		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
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Recently, mutations in Parkin, another E3 ubiquitin ligase which ubiquinates synphilin-1 and glycosylated alpha-synuclein, have been defined as a major cause of autosomal recessive PD. 16752048 2006
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		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
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Mutations in PTEN-induced kinase-1 (PINK1), which encodes a mitochondrial kinase, and PARKIN, encoding an E3 ubiquitin ligase, are the most frequent causes of recessive Parkinson's disease. 21355049 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Mutations in E3 ubiquitin ligase Parkin have been linked to familial Parkinson's disease. 29180628 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Mutations in parkin, an E3 ubiquitin ligase, are the most common cause of autosomal-recessive Parkinson's disease (PD). 21209200 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		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
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Mutations in the parkin gene, encoding an E3 ubiquitin ligase, are responsible for the majority of autosomal recessive PD. 18020977 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin. 25939424 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		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
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Parkin, a RING-between-RING-type E3 ubiquitin ligase associated with Parkinson's disease, has a wide neuroprotective activity, preventing cell death in various stress paradigms. 23453807 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Mutations in the PTEN-induced putative kinase 1 (PINK1), a mitochondrial serine-threonine kinase, and Parkin, an E3 ubiquitin ligase, are associated with autosomal-recessive forms of Parkinson disease (PD). 20508036 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		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
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Parkin, an E3 ubiquitin ligase, is the most frequently mutated gene in hereditary Parkinson's disease. 29138676 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Parkin, an E3 ubiquitin ligase, is the most frequently mutated gene in hereditary Parkinson's disease. 28169962 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE PARK2 encodes for the E3 ubiquitin ligase parkin and is implicated in genetic and sporadic PD. 25583483 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		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
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE TRIM9, a novel brain-specific E3 ubiquitin ligase, is repressed in the brain of Parkinson's disease and dementia with Lewy bodies. 20085810 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		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