RBFOX1, RNA binding fox-1 homolog 1, 54715

N. diseases: 103; N. variants: 76
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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.100 None 1.000 11 2012 2020
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.400 None 0.909 11 2007 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.060 None 1.000 6 2013 2018
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		group Mental Disorders Mental or Behavioral Dysfunction 328 49 0.050 None 1.000 5 2013 2020
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.030 None 0.667 3 2015 2018
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.030 None 0.667 3 2015 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.030 None 1.000 3 2014 2020
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.320 None 1.000 3 2011 2015
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		disease Nervous System Diseases Disease or Syndrome 94 24 0.030 None 1.000 3 2013 2014
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 0.020 None 1.000 2 2018 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.020 None 1.000 2 2015 2018
CUI: C0234535
Disease: Clonic Seizures
Clonic Seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 122 0.300 None 1.000 1 2011 2011
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.300 None 1.000 1 2011 2011
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2014 2014
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2018 2018
CUI: C0270824
Disease: Visual seizure
Visual seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.300 None 1.000 1 2011 2011
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 108 0.300 None 1.000 1 2011 2011
CUI: C0422855
Disease: Vertiginous seizure
Vertiginous seizure 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2011 2011
CUI: C0422854
Disease: Gustatory seizure
Gustatory seizure 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 0.300 None 1.000 1 2011 2011
CUI: C0422853
Disease: Olfactory seizure
Olfactory seizure 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2011 2011
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 143 6 0.300 None 1.000 1 2011 2011
CUI: C0391957
Disease: idiopathic epilepsy
idiopathic epilepsy 		disease Disease or Syndrome 30 3 0.010 None 1.000 1 2013 2013
CUI: C0422852
Disease: Seizures, Auditory
Seizures, Auditory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 102 0.300 None 1.000 1 2011 2011
CUI: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 102 0.300 None 1.000 1 2011 2011
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2014 2014