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: C0523760
Disease: Lysine measurement
Lysine measurement
phenotype Laboratory Procedure 1 1 0.100 1 1 2008 2008
CUI: C0030528
Disease: Paratyphoid Fever
Paratyphoid Fever
disease Bacterial Infections and Mycoses Disease or Syndrome 2 2 0.010 1.000 1 2006 2006
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
disease Nervous System Diseases Disease or Syndrome 3 5 0.010 1.000 1 2013 2013
CUI: C1846865
Disease: Substantia nigra gliosis
Substantia nigra gliosis
phenotype Finding 3 0.100 0
CUI: C0524582
Disease: Mulibrey Nanism
Mulibrey Nanism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 4 13 0.010 1.000 1 2005 2005
CUI: C1859569
Disease: BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 11
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 1 0.010 1.000 1 2006 2006
CUI: C4024979
Disease: Ovarian papillary adenocarcinoma
Ovarian papillary adenocarcinoma
disease Neoplastic Process 5 0.100 0
CUI: C1841984
Disease: GLOMUVENOUS MALFORMATIONS
GLOMUVENOUS MALFORMATIONS
disease Neoplasms Disease or Syndrome 6 2 0.010 1.000 1 2012 2012
CUI: C2608055
Disease: Hereditary Renal Cell Carcinoma
Hereditary Renal Cell Carcinoma
disease Neoplastic Process 7 2 0.010 1.000 1 2005 2005
CUI: C0085568
Disease: Buruli Ulcer
Buruli Ulcer
disease Bacterial Infections and Mycoses; Skin and Connective Tissue Diseases Disease or Syndrome 8 1 0.010 1.000 1 2016 2016
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: C0752205
Disease: Dystonia, Secondary
Dystonia, Secondary
disease Nervous System Diseases Disease or Syndrome 9 0.010 1.000 1 2009 2009
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease
disease Disease or Syndrome 9 2 0.010 < 0.001 1 2018 2018
Parkinson Disease, Secondary Vascular
disease Nervous System Diseases Disease or Syndrome 10 0.200 1 2005 2005
CUI: C0751415
Disease: Atherosclerotic Parkinsonism
Atherosclerotic Parkinsonism
disease Nervous System Diseases Disease or Syndrome 10 0.200 1 2005 2005
CUI: C0751772
Disease: REM Sleep Behavior Disorder
REM Sleep Behavior Disorder
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 10 0.010 1.000 1 2004 2004
Autosomal dominant late onset Parkinson disease
disease Disease or Syndrome 10 5 0.010 1.000 1 2016 2016
CUI: C0030569
Disease: Secondary Parkinson Disease
Secondary Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 11 0.200 1 2005 2005
CUI: C0677050
Disease: Manganese Poisoning
Manganese Poisoning
disease Nervous System Diseases; Substance-Related Disorders Injury or Poisoning 13 0.300 1 2010 2010
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Musculoskeletal Diseases Disease or Syndrome 13 2 0.010 1.000 1 2018 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
disease Disease or Syndrome 14 5 0.010 1.000 1 2011 2011
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 15 16 0.010 1.000 1 2013 2013
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia
disease Nervous System Diseases Disease or Syndrome 16 15 0.020 1.000 2 2000 2009
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement
phenotype Laboratory Procedure 16 88 0.100 1 1 2016 2016
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 17 6 0.010 1.000 1 2008 2008