NFASC, neurofascin, 23114

N. diseases: 62; N. variants: 7
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: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.100 None 0
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 82 4 0.100 None 1.000 12 2014 2019
CUI: C0442874
Disease: Neuropathy
Neuropathy
group Nervous System Diseases Disease or Syndrome 484 110 0.050 None 1.000 5 2017 2019
CUI: C0018378
Disease: Guillain-Barre Syndrome
Guillain-Barre Syndrome
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 163 13 0.020 None 1.000 2 2018 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.020 None 1.000 2 2007 2010
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 95 14 0.020 None 1.000 2 2019 2019
CUI: C0270933
Disease: Inflammatory neuropathy
Inflammatory neuropathy
disease Nervous System Diseases Disease or Syndrome 19 1 0.020 None 1.000 2 2018 2019
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.020 None 1.000 2 2018 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2018 2018
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 3 0.010 None 1.000 1 2019 2019
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None 1.000 1 2019 2019
CUI: C0011303
Disease: Demyelinating Diseases
Demyelinating Diseases
group Nervous System Diseases Disease or Syndrome 156 5 0.010 None 1.000 1 2007 2007
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 2017 2017
CUI: C0011882
Disease: Diabetic Neuropathies
Diabetic Neuropathies
group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 144 12 0.010 None 1.000 1 2017 2017
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.010 None 1.000 1 2019 2019
CUI: C0032587
Disease: Polyradiculoneuropathy
Polyradiculoneuropathy
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2018 2018
Unspecified idiopathic peripheral neuropathy
disease Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 136 23 0.010 None 1.000 1 2019 2019
CUI: C0393847
Disease: Multifocal motor neuropathy
Multifocal motor neuropathy
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2014 2014
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
disease Disease or Syndrome 93 21 0.010 None 1.000 1 2018 2018
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0267048
Disease: Glossoptosis
Glossoptosis
disease Stomatognathic Diseases Disease or Syndrome 25 1 0.100 None 0
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 197 21 0.100 None 0