KIF11, kinesin family member 11, 3832

N. diseases: 156; N. variants: 32
Disease: Chorioretinal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		0.120 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
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		0.120 GeneticVariation disease BEFREE A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family. 22653704 2012
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		0.120 Biomarker disease HPO