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: C0751081
Disease: Trisomy 21, Mitotic Nondisjunction
Trisomy 21, Mitotic Nondisjunction 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 0.300 None 1.000 1 2001 2001
CUI: C0749870
Disease: Upper motor neuron signs
Upper motor neuron signs 		phenotype Sign or Symptom 7 1 0.010 None 1.000 1 2001 2001
CUI: C0432417
Disease: Trisomy 21, Meiotic Nondisjunction
Trisomy 21, Meiotic Nondisjunction 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 0.300 None 1.000 1 2001 2001
CUI: C3854173
Disease: Pre-renal acute kidney injury
Pre-renal acute kidney injury 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 67 4 0.010 None 1.000 1 2001 2001
CUI: C0432416
Disease: Down Syndrome, Partial Trisomy 21
Down Syndrome, Partial Trisomy 21 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 0.300 None 1.000 1 2001 2001
CUI: C1848922
Disease: Hexosaminidase alpha-Subunit Deficiency (Variant B)
Hexosaminidase alpha-Subunit Deficiency (Variant B) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2001 2001
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 5 0.010 None 1.000 1 2001 2001
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.300 None 1.000 1 2001 2001
CUI: C1096293
Disease: Macroangiopathy
Macroangiopathy 		disease Disease or Syndrome 31 6 0.010 None 1.000 1 2001 2001
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 260 95 0.030 None 1.000 3 1995 2002
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		disease Neoplasms Neoplastic Process 724 22 0.310 None 1.000 2 1999 2002
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia 		disease Nervous System Diseases; Cardiovascular Diseases Pathologic Function 120 2 0.300 None 1.000 1 2002 2002
CUI: C1541316
Disease: Adult Giant Cell Glioblastoma
Adult Giant Cell Glioblastoma 		disease Neoplasms Neoplastic Process 13 3 0.010 None 1.000 1 2002 2002
CUI: C1863052
Disease: ALZHEIMER DISEASE, FAMILIAL, 1
ALZHEIMER DISEASE, FAMILIAL, 1 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 4 0.010 None 1.000 1 2002 2002
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma 		disease Neoplasms Neoplastic Process 95 3 0.010 None 1.000 1 2002 2002
CUI: C0013604
Disease: Edema
Edema 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 126 1 0.010 None 1.000 1 2002 2002
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 42 385 0.010 None 1.000 1 2002 2002
CUI: C3899659
Disease: Childhood Giant Cell Glioblastoma
Childhood Giant Cell Glioblastoma 		disease Neoplasms Neoplastic Process 13 3 0.010 None 1.000 1 2002 2002
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 50 13 0.300 None 1.000 1 2002 2002
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 83 46 0.010 None 1.000 1 2002 2002
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 80 53 0.300 None 1.000 1 2002 2002
CUI: C0259783
Disease: mixed gliomas
mixed gliomas 		disease Neoplasms Neoplastic Process 76 0.300 None 1.000 1 2002 2002
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.010 None 1.000 1 2002 2002
CUI: C0010414
Disease: Infection by Cryptococcus neoformans
Infection by Cryptococcus neoformans 		disease Infections Disease or Syndrome 167 1 0.020 None 1.000 2 2003 2003
CUI: C0342388
Disease: Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Adrenocorticotropic hormone (ACTH) deficiency (disorder) 		disease Endocrine System Diseases Disease or Syndrome 24 1 0.010 None 1.000 1 2003 2003