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: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.020 None 1.000 2 2007 2011
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.300 None 1.000 1 2014 2014
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.010 None 1.000 1 2019 2019
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.010 None 1.000 1 2019 2019
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.010 None 1.000 1 2010 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.600 None 0.987 376 12 2002 2020
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.700 None 1.000 92 8 2001 2019
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		disease Nervous System Diseases Disease or Syndrome 51 32 0.100 None 0.984 61 4 2004 2019
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.100 None 0.909 22 3 2002 2018
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		disease Nervous System Diseases Disease or Syndrome 33 1 0.400 None 1.000 18 2001 2018
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		disease Nervous System Diseases Disease or Syndrome 67 37 0.400 None 0.944 18 1 2001 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 1.000 12 2006 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.100 None 1.000 12 2006 2019
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		disease Nervous System Diseases Disease or Syndrome 40 2 0.320 None 1.000 8 2001 2018
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		disease Nervous System Diseases Disease or Syndrome 179 65 0.070 None 1.000 7 2006 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.060 None 1.000 6 2008 2018
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: C0752098
Disease: Autosomal Dominant Parkinsonism
Autosomal Dominant Parkinsonism 		disease Nervous System Diseases Disease or Syndrome 34 3 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: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		disease Disease or Syndrome 247 76 0.060 None 1.000 6 1 2006 2012
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.050 None 1.000 5 2007 2020
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.050 None 1.000 5 2007 2020
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 826 32 0.050 None 1.000 5 2017 2019