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.
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 1 11 0.750 None 0.875 8 11 2013 2018
Spastic Paraplegia 39, Autosomal Recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 12 0.740 None 1.000 10 12 2008 2018
CUI: C1848745
Disease: Oliver-McFarlane syndrome
Oliver-McFarlane syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 3 5 0.720 None 1.000 4 5 2013 2015
CUI: C0023138
Disease: Laurence-Moon Syndrome
Laurence-Moon Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 1 0.700 None 1.000 1 1 2015 2015
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 123 41 0.390 None 1.000 10 2008 2019
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease
disease Nervous System Diseases Disease or Syndrome 186 52 0.340 None 1.000 4 2008 2011
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 8 8 0.320 None 1.000 3 2014 2015
Autosomal Recessive Hereditary Spastic Paraplegia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 20 0.320 None 1.000 3 2010 2016
CUI: C0037050
Disease: Sick Building Syndrome
Sick Building Syndrome
disease Immune System Diseases; Disorders of Environmental Origin Disease or Syndrome 1 0.310 None 1.000 1 2014 2014
CUI: C0521659
Disease: Motor Neuron Disease, Upper
Motor Neuron Disease, Upper
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 2 2008 2010
CUI: C0154681
Disease: Anterior Horn Cell Disease
Anterior Horn Cell Disease
disease Nervous System Diseases Disease or Syndrome 8 1 0.300 None 1.000 2 2008 2010
CUI: C0154682
Disease: Lateral Sclerosis
Lateral Sclerosis
disease Nervous System Diseases Disease or Syndrome 19 1 0.300 None 1.000 2 2008 2010
CUI: C0270764
Disease: Motor Neuron Disease, Lower
Motor Neuron Disease, Lower
disease Nervous System Diseases Disease or Syndrome 23 7 0.300 None 1.000 2 2008 2010
CUI: C0270763
Disease: Familial Motor Neuron Disease
Familial Motor Neuron Disease
disease Nervous System Diseases Disease or Syndrome 9 2 0.300 None 1.000 2 2008 2010
CUI: C0543858
Disease: Motor Neuron Disease, Secondary
Motor Neuron Disease, Secondary
disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 2 2008 2010
Hereditary Autosomal Dominant Spastic Paraplegia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 27 7 0.300 None 1.000 1 2010 2010
Hereditary X-Linked Recessive Spastic Paraplegia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 1 2010 2010
CUI: C0751449
Disease: Acquired Polyneuropathy
Acquired Polyneuropathy
disease Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2012 2012
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.300 None 1.000 1 1993 1993
X-Linked, Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2010 2010
CUI: C4721916
Disease: HMSN Type V
HMSN Type V
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2010 2010
CUI: C0751448
Disease: Polyneuropathy, Familial
Polyneuropathy, Familial
disease Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2012 2012
CUI: C0393851
Disease: Polyneuropathy, Critical Illness
Polyneuropathy, Critical Illness
disease Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2012 2012
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.300 None 1.000 1 2010 2010
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
disease Nervous System Diseases Disease or Syndrome 156 32 0.300 None 1.000 1 2012 2012