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: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 153 18 0.010 None 1.000 1 2012 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2016 2016
CUI: C0525041
Disease: Neurobehavioral Manifestations
Neurobehavioral Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 77 3 0.010 None 1.000 1 2016 2016
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2016 2016
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 7 0.010 None 1.000 1 2012 2012
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2013 2013
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 2014 2014
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 104 12 0.010 None 1.000 1 2013 2013
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 175 101 0.010 None 1.000 1 2017 2017
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2016 2016
CUI: C0751354
Disease: Myoclonus, Action
Myoclonus, Action 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 1 0.010 None 1.000 1 2018 2018
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia 		disease Nervous System Diseases Disease or Syndrome 15 9 0.010 None 1.000 1 2007 2007
CUI: C1868682
Disease: Paroxysmal kinesigenic choreoathetosis
Paroxysmal kinesigenic choreoathetosis 		disease Nervous System Diseases Disease or Syndrome 14 6 0.010 None 1.000 1 2012 2012
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2003 2003
CUI: C1536088
Disease: Positive myoclonus
Positive myoclonus 		phenotype Sign or Symptom 3 0.010 None 1.000 1 2019 2019
CUI: C1536087
Disease: Negative myoclonus
Negative myoclonus 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2014 2014
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1171 66 0.010 None 1.000 1 2003 2003
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.010 None 1.000 1 2003 2003
CUI: C0860603
Disease: Anxiety symptoms
Anxiety symptoms 		phenotype Sign or Symptom 110 10 0.010 None 1.000 1 2009 2009
CUI: C0029421
Disease: Osteochondritis Dissecans
Osteochondritis Dissecans 		disease Musculoskeletal Diseases Disease or Syndrome 22 2 0.010 None 1.000 1 2002 2002
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: 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2010 2010
CUI: C0024299
Disease: Lymphoma
Lymphoma 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.010 None 1.000 1 2003 2003
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2008 2008