SGCE, sarcoglycan epsilon, 8910

N. diseases: 68; N. variants: 27
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: C0027066
Disease: Myoclonus
Myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.200 None 0.950 20 2001 2019
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.100 None 1.000 16 2004 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		group Nervous System Diseases Disease or Syndrome 167 37 0.100 None 1.000 12 2004 2018
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 182 9 0.090 None 1.000 9 2003 2017
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.090 None 1.000 9 2003 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.070 None 1.000 7 2002 2019
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 175 112 0.050 None 1.000 5 2002 2017
CUI: C0154676
Disease: Organic writer's cramp
Organic writer's cramp 		disease Nervous System Diseases Disease or Syndrome 9 3 0.030 None 0.667 3 2008 2009
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom 		phenotype Sign or Symptom 95 12 0.030 None 1.000 3 2012 2017
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp 		disease Nervous System Diseases Disease or Syndrome 26 3 0.130 None 0.667 3 2008 2009
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.020 None 1.000 2 2004 2014
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia 		disease Nervous System Diseases Disease or Syndrome 15 0.020 None 1.000 2 2010 2013
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 177 63 0.020 None 1.000 2 2004 2007
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.020 None 1.000 2 1998 2017
CUI: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.120 None 1.000 2 2013 2016
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.020 None 1.000 2 2013 2014
CUI: C0004936
Disease: Mental disorders
Mental disorders 		group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.020 None 1.000 2 2011 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.020 None 1.000 2 2004 2014
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.320 None 1.000 2 2007 2013
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.020 None 1.000 2 2012 2013
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia 		disease Nervous System Diseases Disease or Syndrome 9 0.200 None 1.000 2 2005 2012
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		group Nervous System Diseases Disease or Syndrome 66 4 0.020 None 1.000 2 2011 2013
CUI: C2875058
Disease: Familial torsion dystonia
Familial torsion dystonia 		disease Disease or Syndrome 3 0.200 None 1.000 2 2005 2012
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		phenotype Sign or Symptom 100 15 0.020 None 1.000 2 2013 2013
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		disease Nervous System Diseases Disease or Syndrome 19 5 0.020 None 0.500 2 2004 2007