Gene: UBE3B ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		0.110 CausalMutation disease CLINVAR Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients. 29160006 2018
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		0.110 CausalMutation disease CLINVAR Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. 28003643 2017
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		0.110 CausalMutation disease CLINVAR UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase. 28003368 2017
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		0.110 CausalMutation disease CLINVAR Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B. 25691420 2015
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		0.110 GeneticVariation disease BEFREE Here, we report on the identification of homozygous or compound heterozygous UBE3B mutations in six additional patients from five unrelated families using either targeted UBE3B sequencing in individuals with suggestive facial dysmorphic features, or exome sequencing. 24615390 2014
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		0.110 CausalMutation disease CLINVAR Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. 24615390 2014
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		0.110 CausalMutation disease CLINVAR Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. 23687348 2013
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		0.110 CausalMutation disease CLINVAR Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. 23200864 2012
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		0.110 CausalMutation disease CLINVAR Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing. 12837265 2003