PINK1, PTEN induced kinase 1, 65018

N. diseases: 209; N. variants: 39
Disease: PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970035
Disease: PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO
PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO 		0.300 Biomarker phenotype MGD Potentiation of neurotoxicity in double-mutant mice with Pink1 ablation and A53T-SNCA overexpression. 25296918 2015
CUI: C1970035
Disease: PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO
PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO 		0.300 Biomarker phenotype MGD Pink1-deficiency in mice impairs gait, olfaction and serotonergic innervation of the olfactory bulb. 22265660 2012
CUI: C1970035
Disease: PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO
PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO 		0.300 Biomarker phenotype MGD Increased mitochondrial calcium sensitivity and abnormal expression of innate immunity genes precede dopaminergic defects in Pink1-deficient mice. 21249202 2011
CUI: C1970035
Disease: PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO
PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO 		0.300 Biomarker phenotype MGD Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration. 19492057 2009
CUI: C1970035
Disease: PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO
PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO 		0.300 Biomarker phenotype MGD Impaired dopamine release and synaptic plasticity in the striatum of PINK1-deficient mice. 17563363 2007
CUI: C1970035
Disease: PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO
PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO 		0.300 SusceptibilityMutation phenotype CLINVAR