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
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3 		0.200 Biomarker disease MGD Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521 2010
Entrez Id: 8082
Gene Symbol: SSPN
SSPN 		0.010 GeneticVariation disease BEFREE Sequencing of the sarcospan gene in CFEOM1 patients from 6 families revealed no mutations. 11180757 2001
Entrez Id: 401
Gene Symbol: PHOX2A
PHOX2A 		0.010 Biomarker disease BEFREE We hypothesize that CFEOM2 results from an analogous developmental defect to CFEOM1, one that affects both the superior and inferior divisions of the oculomotor nerve and their corresponding alpha motoneurons and extraocular muscles. 9683611 1998