NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
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.
Snowflake vitreoretinal degeneration
disease Eye Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2009 2009
CUI: C0154671
Disease: Degenerative brain disorder
Degenerative brain disorder
group Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2017 2017
Late-Infantile Neuronal Ceroid Lipfuscinosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 19 4 0.010 None 1.000 1 2019 2019
CUI: C0393571
Disease: Multiple System Atrophy
Multiple System Atrophy
phenotype Nervous System Diseases Pathologic Function 19 6 0.010 None 1.000 1 2007 2007
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 19 15 0.100 None 0 1
Hereditary Motor and Sensory Neuropathy Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 84 0.100 None 0 6
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 20 4 0.010 None 1.000 1 2019 2019
CUI: C0043020
Disease: Wallerian Degeneration
Wallerian Degeneration
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 21 0.200 None 1.000 1 2000 2000
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease Disease or Syndrome 21 0.200 None 1.000 1 2015 2015
Hereditary motor and sensory neuropathy, types I-IV
disease Disease or Syndrome 21 0.200 None 1.000 1 2015 2015
Peroneal muscular atrophy (axonal type) (hypertrophic type)
disease Disease or Syndrome 21 0.200 None 1.000 1 2015 2015
Segmental peripheral demyelination/remyelination
phenotype Finding 21 0.100 None 0
CUI: C3890602
Disease: Bodily Pain
Bodily Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 22 4 0.010 None 1.000 1 2020 2020
Idiopathic normal pressure hydrocephalus (INPH)
disease Disease or Syndrome 25 0.010 None 1.000 1 2019 2019
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 5 0.200 None 1.000 1 2015 2015
CUI: C0342200
Disease: Endemic Cretinism
Endemic Cretinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 26 0.200 None 1.000 1 2008 2008
CUI: C0878575
Disease: Peripheral demyelination
Peripheral demyelination
phenotype Nervous System Diseases Pathologic Function 27 3 0.100 None 0 1
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation
phenotype Finding 28 1 0.100 None 0
Decreased number of peripheral myelinated nerve fibers
phenotype Finding 28 0.100 None 0
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.010 None 1.000 1 2008 2008
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 32 8 0.010 None 1.000 1 2019 2019
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 33 19 0.010 None 1.000 1 2019 2019
Behavioral variant of frontotemporal dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 35 10 0.040 None 1.000 4 2017 2019
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration
disease Nervous System Diseases Disease or Syndrome 35 14 0.020 None 1.000 2 2018 2019
Dementia due to Alzheimer's disease (disorder)
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 35 1 0.010 None 1.000 1 2019 2019