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.
CUI: C4543926
Disease: Narcolepsy type 1
Narcolepsy type 1 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 35 0.010 None 1.000 1 2020 2020
CUI: C1095979
Disease: Progressive multiple sclerosis
Progressive multiple sclerosis 		disease Disease or Syndrome 37 0.010 None 1.000 1 2017 2017
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
Other Creutzfeldt-Jakob disease 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 37 18 0.010 None < 0.001 1 2019 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 40 23 0.010 None 1.000 1 2019 2019
CUI: C1858729
Disease: Decreased motor nerve conduction velocity
Decreased motor nerve conduction velocity 		phenotype Finding 41 0.100 None 0
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 42 24 0.010 None 1.000 1 2020 2020
CUI: C4721772
Disease: Postoperative delirium
Postoperative delirium 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 42 0.010 None 1.000 1 2020 2020
CUI: C0007684
Disease: Central Nervous System Infection
Central Nervous System Infection 		group Infections; Nervous System Diseases Disease or Syndrome 44 5 0.010 None 1.000 1 2019 2019
CUI: C0001849
Disease: AIDS Dementia Complex
AIDS Dementia Complex 		disease Infections; Immune System Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 45 4 0.010 None 1.000 1 2007 2007
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 45 5 0.010 None 1.000 1 2018 2018
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS 		disease Disease or Syndrome 46 15 0.010 None 1.000 1 2018 2018
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		phenotype Musculoskeletal Diseases Anatomical Abnormality 46 11 0.100 None 0
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 47 42 0.300 moderate 1.000 1 2014 2014
CUI: C1510420
Disease: Cavitation
Cavitation 		disease Anatomical Abnormality 47 0.010 None 1.000 1 2019 2019
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 144 0.010 None 1.000 1 2000 2000
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		phenotype Finding 49 11 0.100 None 0 1
CUI: C1392786
Disease: Cognitive changes
Cognitive changes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 50 15 0.010 None 1.000 1 2019 2019
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 51 11 0.040 None 1.000 4 2017 2019
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 51 5 0.100 None 0
CUI: C0338474
Disease: Central nervous system demyelination
Central nervous system demyelination 		disease Disease or Syndrome 52 3 0.010 None 1.000 1 2018 2018
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 53 11 0.220 None 1.000 3 2001 2015
CUI: C2921627
Disease: Clinically isolated syndrome
Clinically isolated syndrome 		disease Disease or Syndrome 54 2 0.060 None 1.000 6 2017 2018
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 57 23 0.030 None 1.000 3 2018 2019
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		phenotype Finding 58 5 0.100 None 0 1
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		disease Nervous System Diseases Disease or Syndrome 59 13 0.020 None 0.500 2 2004 2006