FBXO11, F-box protein 11, 80204

N. diseases: 93; N. variants: 619
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 GeneticVariation group BEFREE De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. 30679813 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 GeneticVariation group BEFREE We implicate de novo missense and likely gene disrupting variants in FBXO11 in a neurodevelopmental disorder with variable intellectual disability and various other features. 30057029 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 GeneticVariation group BEFREE While ten individuals with ID and de novo variants in FBXO11 have been reported as part of larger studies, only one of the reports has some additional clinical data. 29796876 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 Biomarker group HPO