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: 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: 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: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.100 None 1.000 11 1980 2016
CUI: C0026499
Disease: Monosomy
Monosomy 		group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.010 None 1.000 1 1983 1983
CUI: C0007621
Disease: Neoplastic Cell Transformation
Neoplastic Cell Transformation 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 143 0.300 None 1.000 2 1985 2011
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 29 0.010 None 1.000 1 1986 1986
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 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
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: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
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: 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: 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: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 0.010 None 1.000 1 1989 1989
CUI: C0033687
Disease: Proteinuria
Proteinuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 239 20 0.300 None 1.000 1 1990 1990
CUI: C0027720
Disease: Nephrosis
Nephrosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 68 0.300 None 1.000 1 1990 1990
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: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 687 123 0.050 None 1.000 5 1991 2004
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 136 5 0.020 None 1.000 2 1991 2015
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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.080 None 1.000 8 1 1992 2019
CUI: C0027121
Disease: Myositis
Myositis 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 254 43 0.010 None 1.000 1 1992 1992
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
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.100 None 0.986 146 4 1993 2020
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: C0751955
Disease: Brain Infarction
Brain Infarction 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 114 11 0.010 None 1.000 1 1993 1993