CRBN, cereblon, 51185

N. diseases: 130; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		0.100 Biomarker disease HPO
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.100 Biomarker disease HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		0.100 Biomarker disease HPO
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.100 Biomarker phenotype HPO
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		0.100 Biomarker group HPO
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 Biomarker disease HPO
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 Biomarker disease HPO
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		0.100 Biomarker disease HPO
CUI: C1848207
Disease: Poor speech
Poor speech 		0.100 Biomarker phenotype HPO
CUI: C1854301
Disease: Motor delay
Motor delay 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		0.100 Biomarker phenotype HPO
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		0.100 Biomarker disease HPO
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 		0.100 CausalMutation disease CLINVAR
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		0.100 Biomarker phenotype HPO
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.100 Biomarker phenotype HPO
CUI: C4310776
Disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS 		0.100 CausalMutation disease CLINVAR
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE Intellectual disability (ID), one of the most common human developmental disorders, can be caused by genetic mutations in Cullin 4B (Cul4B) and cereblon (CRBN). 29370161 2018
CUI: C0740404
Disease: Limb defects
Limb defects 		0.010 Biomarker group BEFREE Cereblon loss in zebrafish causes fin defects reminiscent of the limb defects seen in children exposed to thalidomide in utero. 24292623 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE Cereblon (CRBN) was originally identified as a target protein for a mild type of mental retardation in humans. 24755080 2014
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.070 Biomarker disease BEFREE Cereblon (CRBN) was originally identified as a target protein for a mild type of mental retardation in humans. 24755080 2014