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: C0154671
Disease: Degenerative brain disorder
Degenerative brain disorder 		group Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2017 2017
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		group Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 188 19 0.010 None 1.000 1 2018 2018
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		disease Neoplasms Neoplastic Process 786 118 0.010 None 1.000 1 2012 2012
CUI: C0205769
Disease: Myxopapillary ependymoma
Myxopapillary ependymoma 		disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2010 2010
CUI: C3873567
Disease: Peripheral neuropathy due to and following chemotherapy
Peripheral neuropathy due to and following chemotherapy 		disease Nervous System Diseases Disease or Syndrome 72 10 0.010 None 1.000 1 2018 2018
CUI: C0206725
Disease: Subependymal Glioma
Subependymal Glioma 		disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 2010 2010
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: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		phenotype Sign or Symptom 116 7 0.010 None 1.000 1 2006 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.010 None 1.000 1 2001 2001
CUI: C0236960
Disease: Dementia due to Parkinson's disease
Dementia due to Parkinson's disease 		disease Nervous System Diseases Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2018 2018
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2020 2020
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.010 None 1.000 1 2016 2016
CUI: C0393561
Disease: Subcortical Vascular Dementia
Subcortical Vascular Dementia 		disease Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 8 0.010 None 1.000 1 2009 2009
CUI: C0949664
Disease: Tauopathies
Tauopathies 		group Nervous System Diseases Disease or Syndrome 245 43 0.010 None 1.000 1 2017 2017
CUI: C1095979
Disease: Progressive multiple sclerosis
Progressive multiple sclerosis 		disease Disease or Syndrome 37 0.010 None 1.000 1 2017 2017
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 66 0.010 None 1.000 1 2019 2019
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS 		disease Disease or Syndrome 46 15 0.010 None 1.000 1 2018 2018
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		disease Neoplasms Neoplastic Process 1543 348 0.010 None 1.000 1 2014 2014
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		disease Nervous System Diseases Disease or Syndrome 94 12 0.010 None 1.000 1 2016 2016
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.010 None 1.000 1 2016 2016
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 338 36 0.010 None 1.000 1 2 2019 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.010 None 1.000 1 2019 2019
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: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 164 139 0.010 None 1.000 1 2013 2013
CUI: C1510420
Disease: Cavitation
Cavitation 		disease Anatomical Abnormality 47 0.010 None 1.000 1 2019 2019