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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2018 2018
CUI: C0000771
Disease: Abnormalities, Drug-Induced
Abnormalities, Drug-Induced 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 5 0.300 None 1.000 1 2016 2016
CUI: C0220810
Disease: Congenital defects
Congenital defects 		group Congenital Abnormality 126 6 0.010 None 1.000 1 2018 2018
CUI: C0265541
Disease: Cranioschisis
Cranioschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 12 0.300 None 1.000 1 2016 2016
CUI: C0432365
Disease: Thalidomide embryopathy syndrome
Thalidomide embryopathy syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality 8 3 0.010 None 1.000 1 1 2016 2016
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.300 None 1.000 1 2016 2016
CUI: C0740404
Disease: Limb defects
Limb defects 		group Congenital Abnormality 67 2 0.010 None 1.000 1 2014 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 0.100 None 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 2 0.100 None 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 6 0.100 None 0
CUI: C1843942
Disease: Mental Retardation, Autosomal Recessive 2
Mental Retardation, Autosomal Recessive 2 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 2 0.910 None 0.857 7 2 2004 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.020 None 1.000 2 2018 2018
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.020 None 1.000 2 2017 2018
CUI: C1838023
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 1 0.200 None 1.000 2 2012 2018
CUI: C1855304
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 8 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: C1970193
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 11
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 11 		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: 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: C1970195
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9 		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: C1970197
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 2 0.200 None 1.000 2 2012 2018
CUI: C1970198
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 1 0.200 None 1.000 2 2012 2018
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 5 0.200 None 1.000 2 2012 2018
CUI: C1970200
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 2 0.200 None 1.000 2 2012 2018