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: 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: 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: 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: C4014386
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 		disease Disease or Syndrome 2 1 0.200 None 1.000 2 2012 2018
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: C4015172
Disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		disease Disease or Syndrome 2 8 0.100 None 0 5
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: 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: 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: 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: C4706503
Disease: Distal monosomy 3p syndrome
Distal monosomy 3p syndrome 		disease Disease or Syndrome 6 0.010 None 1.000 1 2006 2006
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: 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: 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: C1955690
Disease: Extranodal marginal zone B-cell lymphoma
Extranodal marginal zone B-cell lymphoma 		disease Neoplastic Process 23 0.010 None 1.000 1 2018 2018
CUI: C0349532
Disease: Gastric lymphoma
Gastric lymphoma 		disease Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 24 1 0.010 None 1.000 1 2018 2018
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		phenotype Finding 41 0.100 None 0
CUI: C4551538
Disease: refractory multiple myeloma
refractory multiple myeloma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 50 1 0.020 None 1.000 2 2018 2019
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		phenotype Finding 52 9 0.100 None 0
CUI: C0740404
Disease: Limb defects
Limb defects 		group Congenital Abnormality 67 2 0.010 None 1.000 1 2014 2014
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		disease Nervous System Diseases Disease or Syndrome 75 9 0.100 None 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		phenotype Behavior and Behavior Mechanisms Finding 77 2 0.100 None 0
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: 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