PINK1, PTEN induced kinase 1, 65018

N. diseases: 209; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497327
Disease: Dementia
Dementia
0.150 GeneticVariation disease BEFREE PTEN-induced kinase 1 (PINK1) mutations can cause early-onset Parkinson's disease and patients are likely to develop cognitive decline, depression, and dementia. 31486971 2019
CUI: C0497327
Disease: Dementia
Dementia
0.150 Biomarker disease BEFREE BLBD: brainstem predominant Lewy body disease; CCCP: carbonyl cyanide m-chlorophenyl hydrazone; DLB: dementia with Lewy bodies; DLBD: diffuse neocortical Lewy body disease; EOPD: early-onset Parkinson disease; GVB: granulovacuolar degeneration body; LB: Lewy body; LBD: Lewy body disease; mitoQC: mitochondrial quality control; nbM: nucleus basalis of Meynert; PD: Parkinson disease; PDD: Parkinson disease with dementia; p-S65-Ub: PINK1-phosphorylated serine 65 ubiquitin; SN: substantia nigra; TLBD: transitional Lewy body disease; Ub: ubiquitin. 29947276 2018
CUI: C0497327
Disease: Dementia
Dementia
0.150 Biomarker disease BEFREE Mutations in PRKN, DJ-1, and PINK1 are associated with a rather pure parkinsonian phenotype, and have a more benign course with sustained treatment response and absence of dementia. 20669327 2010
CUI: C0497327
Disease: Dementia
Dementia
0.150 Biomarker disease BEFREE Atypical features in patients from Group I include, for example, a slower disease course (PARK2, PARK6, PARK7) or dementia (PARK1/4, PARK14). 19735092 2009
CUI: C0497327
Disease: Dementia
Dementia
0.150 Biomarker disease LHGDN Thus, early-onset PD with dementia may be considered PINK1-linked parkinsonism. 15955953 2005
CUI: C0497327
Disease: Dementia
Dementia
0.150 Biomarker disease HPO