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: C0684337
Disease: Ewings sarcoma-primitive neuroectodermal tumor (PNET)
Ewings sarcoma-primitive neuroectodermal tumor (PNET) 		disease Neoplasms Neoplastic Process 117 3 0.010 None 1.000 1 1997 1997
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		disease Nervous System Diseases Disease or Syndrome 186 52 0.030 None 1.000 3 1999 2017
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.200 None 1.000 1 1999 1999
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: 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: 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: 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: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.020 None 1.000 2 2001 2016
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.010 None 1.000 1 2001 2001
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: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.300 None 0.972 36 9 2002 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 1.000 12 2002 2019
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 484 110 0.100 None 1.000 10 2 2002 2019
CUI: C0149940
Disease: Sciatic Neuropathy
Sciatic Neuropathy 		disease Nervous System Diseases Disease or Syndrome 115 0.200 None 1.000 2 2002 2003
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 83 0.090 None 1.000 9 2003 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.100 None 0.968 31 2004 2020
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.350 None 0.500 6 2004 2009
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		disease Mental Disorders Mental or Behavioral Dysfunction 641 225 0.310 None 1.000 3 2004 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.300 None 1.000 3 2004 2007
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.310 None 1.000 3 2004 2019
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		disease Nervous System Diseases Disease or Syndrome 59 13 0.020 None 0.500 2 2004 2006
CUI: C0014072
Disease: Experimental Autoimmune Encephalomyelitis
Experimental Autoimmune Encephalomyelitis 		disease Immune System Diseases; Nervous System Diseases Experimental Model of Disease 97 0.200 None 1.000 1 2005 2005
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		group Eye Diseases; Nervous System Diseases Disease or Syndrome 112 2 0.010 None 1.000 1 2005 2005