Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		cullin 4B 0.556 0.769 1.00
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		disease 0.720 definitive 1.000 0 9 1991 2020
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		cullin 4B 0.556 0.769 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.410 strong 1.000 0 1 2012 2018
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		cullin 4B 0.556 0.769 1.00
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease 0.340 None 1.000 0 1 2010 2015
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		cullin 4B 0.556 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 1 2012 2012
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		cullin 4B 0.556 0.769 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 10 3 2000 2017
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		cullin 4B 0.556 0.769 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 10 1 2000 2017
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		cullin 4B 0.556 0.769 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 10 1 2000 2017
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		cullin 4B 0.556 0.769 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 10 1 2000 2017
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		cullin 4B 0.556 0.769 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		cullin 4B 0.556 0.769 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		cullin 4B 0.556 0.769 1.00
CUI: C0796254
Disease: DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES 		disease 0.100 None 0 1
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		cullin 4B 0.556 0.769 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 1