UBE3B, ubiquitin protein ligase E3B, 89910

N. diseases: 119; N. variants: 12
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 GeneticVariation group BEFREE Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. 28003643 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO