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: C0002726
Disease: Amyloidosis
Amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.090 None 1.000 9 2017 2019
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: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.080 None 0.875 8 2007 2019
CUI: C0751967
Disease: Multiple Sclerosis, Relapsing-Remitting
Multiple Sclerosis, Relapsing-Remitting 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 206 7 0.070 None 1.000 7 2017 2020
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.060 None 1.000 6 1991 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 176 52 0.060 None 1.000 6 2017 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.060 None 1.000 6 1996 2019
CUI: C2921627
Disease: Clinically isolated syndrome
Clinically isolated syndrome 		disease Disease or Syndrome 54 2 0.060 None 1.000 6 2017 2018
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.050 None 1.000 5 2017 2019
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		disease Nervous System Diseases Disease or Syndrome 182 46 0.050 None 1.000 5 2017 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.050 None 1.000 5 1993 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.040 None 1.000 4 1996 2015
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: C0948008
Disease: Ischemic stroke
Ischemic stroke 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.040 None 1.000 4 2018 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.040 None 0.750 4 2009 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.040 None 1.000 4 2014 2016
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.040 None 1.000 4 2012 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.040 None 1.000 4 1993 2014
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.040 None 1.000 4 2012 2019
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.040 None 1.000 4 2018 2019
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 549 69 0.040 None 1.000 4 2014 2018
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
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: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.040 None 0.750 4 2009 2019
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: 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