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: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.800 strong 0.985 1565 24 1993 2020
Amyotrophic Lateral Sclerosis, Familial
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 130 68 0.400 None 1.000 437 20 1989 2020
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 164 139 1.000 strong 0.980 294 46 1976 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.100 None 0.993 135 7 1994 2019
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease
disease Nervous System Diseases Disease or Syndrome 186 52 0.700 None 0.981 105 9 1995 2019
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy
disease Disease or Syndrome 138 21 0.100 None 0.923 91 3 1994 2019
Amyotrophic Lateral Sclerosis, Sporadic
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 173 90 0.600 None 0.973 73 7 1994 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.300 None 0.982 57 5 1989 2020
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.100 None 0.981 54 2 2005 2020
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.400 None 1.000 48 1977 2017
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 0.100 None 1.000 40 1980 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.400 None 0.971 35 3 1993 2020
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.100 None 1.000 34 4 1988 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.100 None 1.000 34 4 1988 2019
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.100 None 1.000 34 4 1988 2019
Amyotrophic Lateral Sclerosis, Guam Form
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.330 None 1.000 28 1995 2019
Amyotrophic Lateral Sclerosis With Dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 0.300 None 1.000 25 1995 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 0.100 None 1.000 18 1 2006 2020
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.100 None 0.882 17 1980 2020
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.100 None 0.882 17 1980 2020
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 195 54 0.100 None 0.938 16 1 2007 2019
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.400 None 0.929 14 1 2001 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 1.000 14 4 2003 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 0.100 None 1.000 11 1991 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.080 None 1.000 8 1 1992 2019