SYN1, synapsin I, 6853

N. diseases: 80; N. variants: 16
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: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 1 7 0.700 None 1.000 2 7 2004 2011
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 2012 2012
CUI: C0014549
Disease: Tonic-Clonic Epilepsy
Tonic-Clonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 19 1 0.010 None 1.000 1 2017 2017
CUI: C0206729
Disease: Neurofibrosarcoma
Neurofibrosarcoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 20 13 0.010 None 1.000 1 1997 1997
CUI: C1332200
Disease: Adult Diffuse Astrocytoma
Adult Diffuse Astrocytoma 		disease Neoplasms Neoplastic Process 21 2 0.010 None 1.000 1 2017 2017
CUI: C3899668
Disease: Childhood Diffuse Astrocytoma
Childhood Diffuse Astrocytoma 		disease Neoplasms Neoplastic Process 21 2 0.010 None 1.000 1 2017 2017
CUI: C0338430
Disease: Limbic Encephalitis
Limbic Encephalitis 		disease Neoplasms; Infections; Nervous System Diseases Disease or Syndrome 27 0.020 None 1.000 2 2019 2019
CUI: C0391957
Disease: idiopathic epilepsy
idiopathic epilepsy 		disease Disease or Syndrome 30 3 0.010 None 1.000 1 2013 2013
CUI: C0751791
Disease: Reflex Epilepsy, Audiogenic
Reflex Epilepsy, Audiogenic 		disease Nervous System Diseases Disease or Syndrome 31 0.010 None 1.000 1 2017 2017
CUI: C0454651
Disease: Specific language impairment
Specific language impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 34 9 0.010 None 1.000 1 1 2015 2015
CUI: C2921627
Disease: Clinically isolated syndrome
Clinically isolated syndrome 		disease Disease or Syndrome 54 2 0.010 None 1.000 1 2019 2019
CUI: C0424166
Disease: Social Anxiety
Social Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 57 6 0.010 None 1.000 1 2017 2017
CUI: C0600327
Disease: Toxic Shock Syndrome
Toxic Shock Syndrome 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 61 0.010 None 1.000 1 2018 2018
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		phenotype Finding 65 0.100 None 0
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		disease Nervous System Diseases Disease or Syndrome 73 23 0.020 None 1.000 2 1 2011 2015
CUI: C0280785
Disease: Diffuse Astrocytoma
Diffuse Astrocytoma 		disease Neoplasms Neoplastic Process 81 8 0.010 None 1.000 1 2017 2017
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 104 6 0.010 None 1.000 1 2011 2011
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 136 23 0.010 None 1.000 1 2014 2014
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 141 13 0.010 None 1.000 1 1997 1997
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 155 4 0.010 None 1.000 1 2013 2013
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		phenotype Nutritional and Metabolic Diseases Pathologic Function 162 53 0.200 None 1.000 1 2018 2018
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		phenotype Behavior and Behavior Mechanisms Individual Behavior 176 22 0.100 None 0
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 194 11 0.010 None 1.000 1 2017 2017