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.
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 38 0.930 None 1.000 32 36 1998 2018
CUI: C3711370
Disease: Spastic Paraplegia Type 7
Spastic Paraplegia Type 7
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 2 0.550 None 1.000 7 2 2004 2017
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.430 None 1.000 3 2 1998 2013
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 0.400 None 1.000 35 6 1998 2018
CUI: C0242036
Disease: Paraplegia, Ataxic
Paraplegia, Ataxic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2001 2001
CUI: C0154682
Disease: Lateral Sclerosis
Lateral Sclerosis
disease Nervous System Diseases Disease or Syndrome 19 1 0.300 None 1.000 1 1 2016 2016
CUI: C0278115
Disease: Paraplegia, Spinal
Paraplegia, Spinal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2001 2001
CUI: C0452143
Disease: Paraplegia, Flaccid
Paraplegia, Flaccid
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2001 2001
CUI: C1968845
Disease: Primary Lateral Sclerosis, Adult, 1
Primary Lateral Sclerosis, Adult, 1
disease Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2016 2016
CUI: C0278114
Disease: Paraplegia, Cerebral
Paraplegia, Cerebral
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2001 2001
CUI: C0030486
Disease: Paraplegia
Paraplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 59 0.300 None 1.000 1 2001 2001
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease Nervous System Diseases Disease or Syndrome 104 4 0.300 moderate 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.160 None 1.000 7 7 2009 2019
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.150 None 1.000 6 2 2009 2019
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.120 None 1.000 3 9 2012 2019
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.120 None 1.000 3 2 1999 2017
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 75 37 0.120 None 1.000 2 2 2007 2008
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.110 None 1.000 1 2006 2006
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.110 None 1.000 1 2009 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.981 107 1996 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.987 78 2002 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 1.000 57 2003 2020
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
phenotype Neoplasms Neoplastic Process 1145 24 0.100 None 1.000 54 2002 2020
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 827 60 0.100 None 0.976 42 2015 2020
CUI: C0948245
Disease: Cytokine Release Syndrome
Cytokine Release Syndrome
disease Pathological Conditions, Signs and Symptoms; Chemically-Induced Disorders Disease or Syndrome 29 0.100 None 1.000 32 2016 2020