STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
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: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease Nervous System Diseases Disease or Syndrome 53 122 0.200 None 0.971 34 13 2008 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.400 None 0.931 29 1 2009 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.110 None 1.000 28 6 1998 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 27 3 1998 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 27 1 1998 2016
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 27 37 2008 2018
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.200 None 1.000 22 2010 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 81 10 0.400 None 0.947 19 2008 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.200 None 1.000 18 6 2011 2018
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 149 28 0.490 None 1.000 10 2010 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.370 None 1.000 9 2016 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.180 None 1.000 8 2009 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.150 None 1.000 6 4 2010 2019
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		disease Disease or Syndrome 11 76 0.100 None 1.000 6 6 2010 2016
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.140 None 0.750 4 2 2011 2018
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 63 32 0.530 None 1.000 4 2008 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.040 None 1.000 4 2010 2019
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		disease Nervous System Diseases Disease or Syndrome 57 43 0.030 None 1.000 3 2014 2018
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		disease Nervous System Diseases Disease or Syndrome 46 2 0.030 None 1.000 3 2011 2018
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 114 7 0.020 None 1.000 2 2013 2016
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 2011 2016
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.120 None 1.000 2 2017 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.020 None 1.000 2 2012 2018
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.020 None 0.500 2 2015 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 1.000 2 2006 2018