SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
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: C0558193
Disease: Stiff limbs
Stiff limbs
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 1 0.010 None 1.000 1 2014 2014
Facial onset sensory and motor neuronopathy syndrome
disease Nervous System Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2014 2014
CUI: C0035066
Disease: Renal Artery Obstruction
Renal Artery Obstruction
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.200 None 1.000 1 2008 2008
CUI: C1282365
Disease: Mixed type cataract
Mixed type cataract
disease Eye Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 2011 2011
CUI: C3151343
Disease: SPINOCEREBELLAR ATAXIA 32
SPINOCEREBELLAR ATAXIA 32
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C3715156
Disease: AMYOTROPHIC LATERAL SCLEROSIS 20
AMYOTROPHIC LATERAL SCLEROSIS 20
disease Disease or Syndrome 2 2 0.010 None 1.000 1 1996 1996
CUI: C3899369
Disease: Direct Extension
Direct Extension
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2015 2015
CUI: C0032586
Disease: Polyradiculopathy
Polyradiculopathy
disease Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3 10 0.010 None 1.000 1 1989 1989
CUI: C0221165
Disease: Diplegia
Diplegia
disease Disease or Syndrome 4 2 0.010 None 1.000 1 2009 2009
CUI: C0231689
Disease: Gait, Athetotic
Gait, Athetotic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0231693
Disease: Charcot Gait
Charcot Gait
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0231694
Disease: Gait, Festinating
Gait, Festinating
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0231695
Disease: Cerebellar ataxic gait
Cerebellar ataxic gait
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0231696
Disease: Gait, Hemiplegic
Gait, Hemiplegic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0234996
Disease: Gait, Rigid
Gait, Rigid
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0235000
Disease: Gait, Broadened
Gait, Broadened
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0337210
Disease: Gait, Stumbling
Gait, Stumbling
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 4 0.300 None 1.000 1 2011 2011
CUI: C0349390
Disease: Non-fluent aphasia
Non-fluent aphasia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 2015 2015
CUI: C0427128
Disease: Rapid Fatigue of Gait
Rapid Fatigue of Gait
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0427169
Disease: Marche a Petit Pas
Marche a Petit Pas
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0427177
Disease: Gait, Hysterical
Gait, Hysterical
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0543858
Disease: Motor Neuron Disease, Secondary
Motor Neuron Disease, Secondary
disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2006 2006
CUI: C0751316
Disease: Acquired Meningomyelocele
Acquired Meningomyelocele
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Acquired Abnormality 4 0.300 None 1.000 1 2012 2012
CUI: C0751829
Disease: Gait Disorder, Sensorimotor
Gait Disorder, Sensorimotor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2011 2011