STXBP1, syntaxin binding protein 1, 6812

N. diseases: 20; N. variants: 61
Source: CURATED ×
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: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		disease Nervous System Diseases Disease or Syndrome 1 37 0.710 None 1.000 13 37 2008 2018
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 13 0.530 None 1.000 2 2008 2018
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 24 6 0.490 None 1.000 2 2010 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 109 90 0.400 None 0.931 1 2009 2019
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		disease Nervous System Diseases Disease or Syndrome 16 0.400 None 0.947 1 2008 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 93 4 0.370 None 1.000 2 2016 2019
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 9 0.310 None 1.000 1 2008 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 883 1629 0.310 None 1.000 1 2013 2013
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 42 0.300 None 1.000 2 2015 2015
CUI: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 11 0.300 None 1.000 1 2008 2008
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 1 2018 2018
CUI: C0236018
Disease: Aura
Aura 		phenotype Nervous System Diseases Finding 82 0.300 None 1.000 1 2018 2018
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		disease Nervous System Diseases Disease or Syndrome 10 6 0.300 None 1.000 1 2008 2008
CUI: C0338478
Disease: Idiopathic Myoclonic Epilepsy
Idiopathic Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2008 2008
CUI: C0751120
Disease: Benign Infantile Myoclonic Epilepsy
Benign Infantile Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2008 2008
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 1 2018 2018
CUI: C0438414
Disease: Myoclonic Encephalopathy
Myoclonic Encephalopathy 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2008 2008
CUI: C0338479
Disease: Symptomatic Myoclonic Epilepsy
Symptomatic Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2008 2008
CUI: C0393695
Disease: Early Childhood Epilepsy, Myoclonic
Early Childhood Epilepsy, Myoclonic 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2008 2008
CUI: C0393703
Disease: Myoclonic Absence Epilepsy
Myoclonic Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2008 2008