KIF11, kinesin family member 11, 3832

N. diseases: 156; N. variants: 32
Disease: Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.040 GeneticVariation disease BEFREE Patients with KIF11 mutations showed typical, but variable, signs of FEVR with or without microcephaly, lymphoedema and mental retardation. 26472404 2016
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.040 GeneticVariation disease BEFREE Recently, heterozygous mutations in KIF11, a gene encoding a critical spindle motor protein of the Kinesin family, have been reported in individuals with MLCRD, and in individuals with CDMMR. 25115524 2014
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.040 GeneticVariation disease BEFREE Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations. 24281367 2014
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.040 GeneticVariation disease BEFREE Ophthalmologists should be aware of the range of presentations for mutations in KIF11 because the phenotypic distinction between FEVR and MLCRD/CDMMR portends management implications in patients with these conditions. 25124931 2014