PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 245; N. variants: 52
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: C0032584
Disease: polyps
polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 284 19 0.010 1.000 1 2010 2010
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 144 5 0.300 1 2007 2007
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 369 1022 0.100 3 1 2015 2017
Limb-girdle muscular dystrophy type 2H
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality; Disease or Syndrome 8 4 0.010 1.000 1 2006 2006
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.800 strong 0.964 234 14 1998 2018
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
disease Nervous System Diseases Disease or Syndrome 95 28 0.900 1.000 121 25 1995 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 213 64 0.500 0.943 82 1 1999 2016
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
disease Disease or Syndrome 44 22 0.400 1.000 57 3 1998 2018
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile
disease Nervous System Diseases Disease or Syndrome 41 3 0.450 1.000 31 2 1999 2016
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism
disease Nervous System Diseases Disease or Syndrome 33 0.400 1.000 19 1999 2016
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
disease Disease or Syndrome 92 33 0.400 0.769 16 6 1999 2016
CUI: C0023343
Disease: Leprosy
Leprosy
disease Bacterial Infections and Mycoses Disease or Syndrome 142 148 0.400 1.000 10 1 2004 2016
CUI: C0242423
Disease: Ramsay Hunt Paralysis Syndrome
Ramsay Hunt Paralysis Syndrome
disease Nervous System Diseases Disease or Syndrome 27 0.300 8 1999 2016
Autosomal Dominant Juvenile Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 27 0.300 8 1999 2016
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
Autosomal Dominant Parkinsonism
disease Nervous System Diseases Disease or Syndrome 32 2 0.300 8 1999 2016
CUI: C0752104
Disease: Familial Juvenile Parkinsonism
Familial Juvenile Parkinsonism
disease Nervous System Diseases Disease or Syndrome 27 0.300 8 1999 2016
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 289 91 0.070 0.857 7 2006 2016
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 118 130 0.070 1.000 7 2004 2008
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
disease Disease or Syndrome 248 57 0.070 0.857 7 2006 2016
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections
group Skin and Connective Tissue Diseases; Virus Diseases Disease or Syndrome 502 6 0.050 1.000 5 2004 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 744 41 0.050 1.000 5 2003 2011
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 50 25 0.050 1.000 5 2005 2016
CUI: C0162534
Disease: Prion Diseases
Prion Diseases
group Nervous System Diseases Disease or Syndrome 79 30 0.040 0.500 4 2009 2016
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 59 132 0.040 1.000 4 2004 2014
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
group Nervous System Diseases Disease or Syndrome 134 25 0.040 1.000 4 2003 2010