PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
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: C1843632
Disease: LEPROSY, SUSCEPTIBILITY TO, 2
LEPROSY, SUSCEPTIBILITY TO, 2 		disease Disease or Syndrome 1 1 0.400 moderate 0 1
CUI: C0523760
Disease: Lysine measurement
Lysine measurement 		phenotype Laboratory Procedure 3 3 0.100 None 1.000 1 1 2008 2008
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 1 2004 2016
CUI: C0030528
Disease: Paratyphoid Fever
Paratyphoid Fever 		disease Infections Disease or Syndrome 4 2 0.010 None < 0.001 1 2006 2006
CUI: C0340434
Disease: Dystrophic cardiomyopathy
Dystrophic cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C1859569
Disease: BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 11 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 2006 2006
CUI: C0524582
Disease: Mulibrey Nanism
Mulibrey Nanism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 7 13 0.010 None 1.000 1 2005 2005
CUI: C0795858
Disease: Chromosome 15q, trisomy
Chromosome 15q, trisomy 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C4024979
Disease: Ovarian papillary adenocarcinoma
Ovarian papillary adenocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 7 0.100 None 0
CUI: C1859305
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 8 8 0.010 None 1.000 1 2019 2019
CUI: C2608055
Disease: Hereditary Renal Cell Carcinoma
Hereditary Renal Cell Carcinoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 8 2 0.010 None 1.000 1 2005 2005
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 0.030 None 1.000 3 2017 2019
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 134 0.010 None 1.000 1 2010 2010
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		disease Nervous System Diseases Disease or Syndrome 9 25 0.010 None 1.000 1 2010 2010
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: C0752205
Disease: Dystonia, Secondary
Dystonia, Secondary 		disease Nervous System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2009 2009
CUI: C0751414
Disease: Parkinson Disease, Secondary Vascular
Parkinson Disease, Secondary Vascular 		disease Nervous System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2005 2005
CUI: C0751415
Disease: Atherosclerotic Parkinsonism
Atherosclerotic Parkinsonism 		disease Nervous System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2005 2005
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: C0085568
Disease: Buruli Ulcer
Buruli Ulcer 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 13 4 0.010 None 1.000 1 2016 2016
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 13 60 0.010 None 1.000 1 2017 2017
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; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 13 4 0.010 None 1.000 1 2018 2018
CUI: C1841984
Disease: GLOMUVENOUS MALFORMATIONS
GLOMUVENOUS MALFORMATIONS 		disease Neoplasms Disease or Syndrome 13 3 0.010 None 1.000 1 2012 2012
CUI: C4281802
Disease: Spongiform encephalopathy
Spongiform encephalopathy 		disease Infections; Nervous System Diseases Disease or Syndrome 14 2 0.010 None 1.000 1 2013 2013