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: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease Disease or Syndrome 93 21 0.010 None 1.000 1 2016 2016
CUI: C1260959
Disease: Drusen
Drusen 		disease Disease or Syndrome 57 18 0.010 None 1.000 1 2011 2011
CUI: C1301700
Disease: Cardiovascular morbidity
Cardiovascular morbidity 		phenotype Disease or Syndrome 75 2 0.010 None 1.000 1 2012 2012
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		disease Disease or Syndrome 84 14 0.010 None 1.000 1 2013 2013
CUI: C1504532
Disease: Post transplant diabetes mellitus
Post transplant diabetes mellitus 		disease Disease or Syndrome 21 11 0.010 None < 0.001 1 2010 2010
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2011 2011
CUI: C1708502
Disease: Induced cataract
Induced cataract 		disease Disease or Syndrome 13 0.010 None 1.000 1 2016 2016
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease Disease or Syndrome 106 7 0.010 None 1.000 1 2014 2014
CUI: C2220255
Disease: Motor disturbances
Motor disturbances 		phenotype Sign or Symptom 16 1 0.010 None 1.000 1 2011 2011
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp 		disease Neoplastic Process 48 6 0.010 None 1.000 1 2017 2017
CUI: C2745900
Disease: Promyelocytic leukemia
Promyelocytic leukemia 		disease Neoplastic Process 255 2 0.010 None 1.000 1 1 2007 2007
CUI: C2748361
Disease: H5N1 influenza
H5N1 influenza 		disease Disease or Syndrome 31 1 0.010 None 1.000 1 2016 2016
CUI: C3164407
Disease: Oligoasthenozoospermia
Oligoasthenozoospermia 		disease Disease or Syndrome 25 6 0.010 None 1.000 1 2014 2014
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 31 54 0.300 None 1.000 1 3 2015 2015
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.010 None 1.000 1 1 2012 2012
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: C3825276
Disease: Stereotyped behavior (Psychiatry)
Stereotyped behavior (Psychiatry) 		disease Mental or Behavioral Dysfunction 5 1 0.010 None 1.000 1 2019 2019
CUI: C4087397
Disease: Mammary gland tumor
Mammary gland tumor 		disease Neoplastic Process 22 2 0.010 None 1.000 1 2018 2018
CUI: C4317045
Disease: Gluten intolerance
Gluten intolerance 		disease Disease or Syndrome 16 1 0.010 None 1.000 1 2017 2017
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		phenotype Anatomical Abnormality 12 1 0.010 None 1.000 1 2017 2017
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C1846566
Disease: Degeneration of the lateral corticospinal tracts
Degeneration of the lateral corticospinal tracts 		phenotype Finding 21 0.100 None 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype Finding 87 0.100 None 0
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		phenotype Finding 60 0.100 None 0
CUI: C4022588
Disease: Fatigable weakness of swallowing muscles
Fatigable weakness of swallowing muscles 		phenotype Finding 39 0.100 None 0