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: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 16 0.950 None 1.000 24 16 2000 2019
CUI: C4693509
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		disease Disease or Syndrome 1 2 0.600 strong 1.000 6 2 2000 2016
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 6 0.700 None 1.000 4 6 2000 2013
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: C4749824
Disease: Charcot-Marie-Tooth disease type 2B5
Charcot-Marie-Tooth disease type 2B5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2009 2009
CUI: C1843169
Disease: Clusters of axonal regeneration
Clusters of axonal regeneration 		phenotype Finding 1 0.100 None 0
CUI: C2930862
Disease: Primary angiitis of the central nervous system
Primary angiitis of the central nervous system 		disease Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1843228
Disease: Hypotrophy of the small hand muscles
Hypotrophy of the small hand muscles 		disease Disease or Syndrome 2 0.100 None 0
CUI: C3887518
Disease: Adult Myxopapillary Ependymoma
Adult Myxopapillary Ependymoma 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2010 2010
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
Charcot-Marie-Tooth disease, Type 2B1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 6 0.100 None 0 1
CUI: C1843168
Disease: Myelin outfoldings
Myelin outfoldings 		phenotype Finding 4 0.100 None 0
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: C0281328
Disease: Adult Subependymoma
Adult Subependymoma 		disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2010 2010
CUI: C0270913
Disease: Charcot-Marie-Tooth disease, Type 1C
Charcot-Marie-Tooth disease, Type 1C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 9 0.100 None 0 1
CUI: C4324721
Disease: Radiologically isolated syndrome
Radiologically isolated syndrome 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 8 0.030 None 1.000 3 2018 2018
CUI: C0238051
Disease: Cerebral Angiitis
Cerebral Angiitis 		disease Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2019 2019
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: C4723619
Disease: Brain Ependymoma
Brain Ependymoma 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2010 2010
CUI: C1847651
Disease: Rapidly progressive dementia
Rapidly progressive dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 9 4 0.010 None 1.000 1 2019 2019
CUI: C4025799
Disease: Ulnar claw
Ulnar claw 		disease Musculoskeletal Diseases Congenital Abnormality 9 0.100 None 0
CUI: C0239830
Disease: Hand muscle atrophy
Hand muscle atrophy 		phenotype Finding 10 2 0.100 None 0 1
CUI: C0205769
Disease: Myxopapillary ependymoma
Myxopapillary ependymoma 		disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2010 2010
CUI: C0751699
Disease: Minimally Conscious State
Minimally Conscious State 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2017 2017
CUI: C4082769
Disease: Chronic Traumatic Encephalopathy
Chronic Traumatic Encephalopathy 		disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
CUI: C0206725
Disease: Subependymal Glioma
Subependymal Glioma 		disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 2010 2010