PINK1, PTEN induced kinase 1, 65018

N. diseases: 209; N. variants: 39
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1970035
Disease: PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO
PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO 		phenotype Finding 1 1 0.300 None 1.000 5 1 2007 2015
CUI: C0872410
Disease: Posturing
Posturing 		phenotype Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		disease Nervous System Diseases Disease or Syndrome 4 7 0.030 None 1.000 3 2004 2017
CUI: C0277561
Disease: Juvenile disease
Juvenile disease 		disease Disease or Syndrome 4 0.010 None 1.000 1 2013 2013
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile 		disease Nervous System Diseases Disease or Syndrome 5 4 0.010 None 1.000 1 2015 2015
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		disease Nervous System Diseases Disease or Syndrome 9 25 0.930 None 1.000 44 24 2004 2017
CUI: C4274355
Disease: Autosomal dominant late onset Parkinson disease
Autosomal dominant late onset Parkinson disease 		disease Nervous System Diseases Disease or Syndrome 9 5 0.010 None 1.000 1 2015 2015
CUI: C1868596
Disease: Atypical Parkinson Disease
Atypical Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2019 2019
CUI: C0278097
Disease: Abnormal male sexual function
Abnormal male sexual function 		disease Mental or Behavioral Dysfunction 12 0.100 None 0
CUI: C1112443
Disease: Male sexual dysfunction
Male sexual dysfunction 		disease Disease or Syndrome 12 0.100 None 0
CUI: C0001614
Disease: Adrenal Cortex Diseases
Adrenal Cortex Diseases 		group Endocrine System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2017 2017
CUI: C0595905
Disease: cortex bone disorders
cortex bone disorders 		disease Musculoskeletal Diseases Disease or Syndrome 13 0.010 None 1.000 1 2017 2017
CUI: C0920715
Disease: Myocardial hypoxia
Myocardial hypoxia 		disease Disease or Syndrome 13 0.010 None 1.000 1 2017 2017
CUI: C0004782
Disease: Basal Ganglia Diseases
Basal Ganglia Diseases 		group Nervous System Diseases Disease or Syndrome 19 0.010 None 1.000 1 2008 2008
CUI: C3825201
Disease: Mitochondrial pathology
Mitochondrial pathology 		phenotype Disease or Syndrome 20 6 0.050 None 1.000 5 2006 2018
CUI: C0338455
Disease: Dementia of frontal lobe type
Dementia of frontal lobe type 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 20 0.100 None 0
CUI: C0233488
Disease: Feeling despair
Feeling despair 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 21 3 0.010 None 1.000 1 2019 2019
CUI: C1112442
Disease: Female sexual dysfunction
Female sexual dysfunction 		disease Mental or Behavioral Dysfunction 22 3 0.100 None 0
CUI: C0242423
Disease: Ramsay Hunt Paralysis Syndrome
Ramsay Hunt Paralysis Syndrome 		disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 6 2001 2015
CUI: C0752097
Disease: Autosomal Dominant Juvenile Parkinson Disease
Autosomal Dominant Juvenile Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 6 2001 2015
CUI: C0752101
Disease: Parkinsonism, Experimental
Parkinsonism, Experimental 		disease Nervous System Diseases Experimental Model of Disease 28 0.300 None 1.000 6 2001 2015
CUI: C0752104
Disease: Familial Juvenile Parkinsonism
Familial Juvenile Parkinsonism 		disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 6 2001 2015
CUI: C0234252
Disease: Mechanical pain
Mechanical pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 30 4 0.010 None 1.000 1 2009 2009
CUI: C0013386
Disease: Dyskinesia, Drug-Induced
Dyskinesia, Drug-Induced 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 32 0.010 None 1.000 1 2010 2010
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 32 8 0.010 None 1.000 1 2009 2009