CRBN, cereblon, 51185

N. diseases: 130; 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: C4014745
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 		disease Disease or Syndrome 2 3 0.200 None 1.000 2 2012 2018
CUI: C3280523
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 31
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 31 		disease Disease or Syndrome 1 0.200 None 1.000 2 2012 2018
CUI: C4014343
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 		disease Disease or Syndrome 2 13 0.200 None 1.000 2 2012 2018
CUI: C3810225
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 		disease Disease or Syndrome 2 4 0.200 None 1.000 2 2012 2018
CUI: C3809853
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 		disease Disease or Syndrome 3 2 0.200 None 1.000 2 2012 2018
CUI: C3809753
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 		disease Disease or Syndrome 2 2 0.200 None 1.000 2 2012 2018
CUI: C3809672
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 		disease Disease or Syndrome 2 1 0.200 None 1.000 2 2012 2018
CUI: C1970179
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.200 None 1.000 2 2012 2018
CUI: C3281044
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY 		disease Disease or Syndrome 2 4 0.200 None 1.000 2 2012 2018
CUI: C3810080
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		disease Disease or Syndrome 2 3 0.200 None 1.000 2 2012 2018
CUI: C3280545
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 28
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 28 		disease Disease or Syndrome 1 0.200 None 1.000 2 2012 2018
CUI: C1970194
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 10
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 10 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.200 None 1.000 2 2012 2018
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.110 None 1.000 1 1 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2015 2015
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.110 None 1.000 1 2008 2008
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 0.100 None 1.000 16 1 2004 2019
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		phenotype Laboratory Procedure 272 452 0.100 None 1.000 2 2 2017 2018
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.100 None 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.100 None 0
CUI: C4310776
Disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS 		disease Disease or Syndrome 2 3 0.100 None 0 2
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 236 10 0.100 None 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype Nervous System Diseases Finding 152 7 0.100 None 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		disease Nervous System Diseases Disease or Syndrome 75 9 0.100 None 0