PANK2, pantothenate kinase 2, 80025

N. diseases: 9; N. variants: 46
Source: CURATED ×
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: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 41 0.800 None 0.989 9 41 2001 2019
CUI: C1846582
Disease: Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 5 0.620 None 1.000 1 5 2002 2006
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 86 61 0.500 strong 1.000 1 1 2001 2019
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 83 17 0.400 None 1.000 1 2 2010 2010
CUI: C2931845
Disease: Neurodegeneration with brain iron accumulation (NBIA)
Neurodegeneration with brain iron accumulation (NBIA) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.400 None 0.974 1 2005 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 39 0.390 None 1.000 2 2005 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 883 1629 0.310 None 1.000 1 2012 2012
CUI: C0270715
Disease: Degenerative Diseases, Central Nervous System
Degenerative Diseases, Central Nervous System 		group Nervous System Diseases Disease or Syndrome 39 0.300 None 1.000 2 2006 2007
CUI: C0751733
Disease: Degenerative Diseases, Spinal Cord
Degenerative Diseases, Spinal Cord 		group Nervous System Diseases Disease or Syndrome 39 0.300 None 1.000 2 2006 2007