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: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
disease Nervous System Diseases Disease or Syndrome 19 29 1.000 None 0.956 90 26 2000 2019
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: 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: 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: 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: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 1 0.200 None 1.000 2 2005 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.020 None 1.000 2 2004 2014
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: 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: 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: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease Nervous System Diseases Disease or Syndrome 19 5 0.020 None 0.500 2 2004 2007
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia
disease Nervous System Diseases Disease or Syndrome 15 0.020 None 1.000 2 2010 2013
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia
disease Nervous System Diseases Disease or Syndrome 28 33 0.020 None 1.000 2 2013 2019
CUI: C2875058
Disease: Familial torsion dystonia
Familial torsion dystonia
disease Disease or Syndrome 3 0.200 None 1.000 2 2005 2012
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.110 None 1.000 1 2013 2013
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 107 84 0.010 None 1.000 1 2013 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2010 2010
CUI: C0009595
Disease: Obsessive-Compulsive Personality
Obsessive-Compulsive Personality
disease Mental Disorders Mental or Behavioral Dysfunction 15 2 0.010 None 1.000 1 2002 2002
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.300 None 1.000 1 2012 2012
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.400 None 1.000 1 2012 2012
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 270 139 0.010 None 1.000 1 2019 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.010 None 1.000 1 2016 2016
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 117 50 0.010 None 1.000 1 2007 2007
CUI: C0029421
Disease: Osteochondritis Dissecans
Osteochondritis Dissecans
disease Musculoskeletal Diseases Disease or Syndrome 22 2 0.010 None 1.000 1 2002 2002