Gene: KIF21A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A 		0.970 GeneticVariation disease BEFREE Structural basis for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations. 27485312 2016
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A 		0.970 Biomarker disease MGD Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling. 24656932 2014
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A 		0.970 GeneticVariation disease UNIPROT A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome. 24715754 2014
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A 		0.970 Biomarker disease BEFREE KIF21A immunoreactivity is also observed in extraocular and skeletal muscle biopsies of control and CFEOM1 patients, where it co-localizes with triadin, a marker of the excitation-contractile coupling system. 22465342 2012
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A 		0.970 GeneticVariation disease BEFREE The lack of KIF21A mutations in CFEOM1 patients exclusively from consanguineous families, most of whom had siblings with CFEOM, is strong evidence for a recessive form of CFEOM1. 21264235 2011
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A 		0.970 Biomarker disease GENOMICS_ENGLAND Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. 18332320 2008
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A 		0.970 GeneticVariation disease BEFREE Linkage to the FEOM1 locus could not be excluded in our family, but mutation in KIF21A, a major cause of the CFEOM1 phenotype, was not detected. 17551929 2007
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A 		0.970 GeneticVariation disease UNIPROT Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. 17511870 2007
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A 		0.970 GeneticVariation disease UNIPROT A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. 16157808 2005
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A 		0.970 Biomarker disease BEFREE CFEOM1 maps to the FEOM1 locus on chromosome 12 and is the consequence of mutations in the KIF21A gene. 15621876 2004
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A 		0.970 GeneticVariation disease UNIPROT Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). 14595441 2003
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A 		0.970 Biomarker disease BEFREE We have previously determined that a CFEOM1 gene maps to the FEOM1 locus on chromosome 12cen. 11882252 2002
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A 		0.970 Biomarker disease BEFREE To determine whether mutations in the sarcospan gene are responsible for CFEOM1 we: (1) attempted to map sarcospan to the CFEOM1 critical region; (2) developed a genomic primer set to directly sequence the sarcospan gene in CFEOM1 patients; and (3) generated an anti-sarcospan antibody to examine extraocular muscle biopsies from CFEOM1 patients. 11180757 2001
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A 		0.970 CausalMutation disease CLINVAR
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A 		0.970 Biomarker disease CTD_human