UBE3B, ubiquitin protein ligase E3B, 89910

N. diseases: 119; N. variants: 12
Disease: Kaufman oculocerebrofacial syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs398123023
rs398123023 		1.000 0.280 12 109521251 missense variant A/C snv
CUI: C1855663
Disease: Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2012 2012
dbSNP: rs1555269815
rs1555269815 		1.000 0.280 12 109524504 splice donor variant G/A snv
CUI: C1855663
Disease: Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs398123020
rs398123020 		1.000 0.280 12 109509716 splice donor variant T/C snv
CUI: C1855663
Disease: Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs398123021
rs398123021 		1.000 0.280 12 109521290 frameshift variant AG/- delins
CUI: C1855663
Disease: Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs398123022
rs398123022 		1.000 0.280 12 109489917 splice acceptor variant A/G snv
CUI: C1855663
Disease: Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs539407162
rs539407162 		1.000 0.280 12 109533533 missense variant G/A;C snv 4.0E-06
CUI: C1855663
Disease: Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0