PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
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: C2673482
Disease: Increased susceptibility to schizophrenia
Increased susceptibility to schizophrenia 		phenotype Finding 1 0.300 None 1.000 1 2005 2005
CUI: C4016483
Disease: PELIZAEUS-MERZBACHER DISEASE, CONNATAL
PELIZAEUS-MERZBACHER DISEASE, CONNATAL 		disease Finding 1 2 0.100 None 0 2
CUI: C4016484
Disease: PELIZAEUS-MERZBACHER DISEASE, MILD
PELIZAEUS-MERZBACHER DISEASE, MILD 		disease Finding 1 1 0.100 None 0 1
CUI: C4021852
Disease: Reduction of oligodendroglia
Reduction of oligodendroglia 		phenotype Finding 1 0.100 None 0
CUI: C0333457
Disease: Segmental demyelination
Segmental demyelination 		disease Nervous System Diseases Disease or Syndrome 2 2 0.010 None 1.000 1 2016 2016
CUI: C0751914
Disease: Adult Pelizaeus-Merzbacher Disease
Adult Pelizaeus-Merzbacher Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2008 2008
CUI: C0751915
Disease: Pelizaeus-Merzbacher Disease, Atypical
Pelizaeus-Merzbacher Disease, Atypical 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 1 0.400 None 1.000 1 1 2008 2008
CUI: C0751916
Disease: Classic Pelizaeus-Merzbacher Disease
Classic Pelizaeus-Merzbacher Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2008 2008
CUI: C0751917
Disease: Pelizaeus-Merzbacher Disease, Transitional
Pelizaeus-Merzbacher Disease, Transitional 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2008 2008
CUI: C0751918
Disease: Cockayne-Pelizaeus-Merzbacher Disease
Cockayne-Pelizaeus-Merzbacher Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2008 2008
CUI: C1837355
Disease: Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Hypomyelinating, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 14 0.020 None 1.000 2 2008 2019
CUI: C0751605
Disease: X-Linked, Spastic Paraplegia, Hereditary
X-Linked, Spastic Paraplegia, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 1995 1995
CUI: C1864723
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 11 0.010 None 1.000 1 2011 2011
CUI: C0270733
Disease: Striatonigral Degeneration
Striatonigral Degeneration 		disease Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C1608410
Disease: Head titubation
Head titubation 		phenotype Sign or Symptom 7 1 0.100 None 0
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 13 1.000 None 1.000 35 13 1962 2017
CUI: C0393665
Disease: Multiple Sclerosis, Chronic Progressive
Multiple Sclerosis, Chronic Progressive 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2005 2005
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 9 3 0.100 None 0
CUI: C0751604
Disease: Hereditary X-Linked Recessive Spastic Paraplegia
Hereditary X-Linked Recessive Spastic Paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 0.100 None 1.000 25 2001 2020
CUI: C4274084
Disease: Pelizaeus Merzbacher like disease
Pelizaeus Merzbacher like disease 		disease Disease or Syndrome 10 0.050 None 0.800 5 1997 2016
CUI: C1836904
Disease: Spastic/hyperactive bladder
Spastic/hyperactive bladder 		phenotype Finding 10 0.100 None 0
CUI: C0265780
Disease: Congenital absence of lung
Congenital absence of lung 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 11 0.010 None 1.000 1 2007 2007
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Mental or Behavioral Dysfunction 11 8 0.010 None 1.000 1 2015 2015
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 12 65 0.010 None 1.000 1 2010 2010
CUI: C1859736
Disease: Progressive spastic quadriplegia
Progressive spastic quadriplegia 		phenotype Finding 12 2 0.100 None 0