Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Congenital Fibrosis of the Extraocular Muscles
0.500 GeneticVariation disease BEFREE A total of 13 patients with genetically confirmed CFEOM (via genetic testing for mutations in KIF21A, PHOX2A, and TUBB3) were retrospectively identified after undergoing strabismus surgery at Boston Children's Hospital and surgical outcomes were compared. 31541710 2019
Congenital Fibrosis of the Extraocular Muscles
0.500 GeneticVariation disease BEFREE Although mouse-model experiments have not revealed any findings of neuronal migration disorders, human TUBB3 mutations have been identified in patients with congenital fibrosis of the extraocular muscles. 26739025 2016
Congenital Fibrosis of the Extraocular Muscles
0.500 GeneticVariation disease BEFREE Because TUBB3 mutations reported to cause CFEOM had not been associated with cortical malformations, while mutations reported to cause MCD had not been associated with CFEOM or other forms of paralytic strabismus, it was hypothesized that each set of mutations might alter microtubule function differently. 26639658 2016
Congenital Fibrosis of the Extraocular Muscles
0.500 GeneticVariation disease BEFREE A de novo TUBB3 c.1228G>A mutation arose in a female proband who displayed CFEOM, facial weakness, intellectual and social disabilities, and anosmia. 25559402 2015
Congenital Fibrosis of the Extraocular Muscles
0.500 GeneticVariation disease BEFREE Four unrelated participants, also not meeting MDC, had large-angle exotropia, vertical gaze deficiency, and ptosis consistent with congenital fibrosis of the extraocular muscles type 3 (CFEOM3); 1 patient harbored a novel TUBB3 mutation, and 3 patients harbored previously reported de novo TUBB3 mutations. 24612975 2014
Congenital Fibrosis of the Extraocular Muscles
0.500 GeneticVariation disease BEFREE One of the eight TUBB3 mutations reported to cause congenital fibrosis of the extraocular muscles, c.1228G>A results in a TUBB3 E410K amino acid substitution that directly alters a kinesin motor protein binding site. 23378218 2013
Congenital Fibrosis of the Extraocular Muscles
0.500 Biomarker disease GENOMICS_ENGLAND Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521 2010
Congenital Fibrosis of the Extraocular Muscles
0.500 GeneticVariation disease BEFREE Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. 20393110 2010
Congenital Fibrosis of the Extraocular Muscles
0.500 GeneticVariation disease BEFREE One family had CFEOM type 3 (CFEOM3) with typically varying expression of phenotypes between individuals. 18332320 2008
Congenital Fibrosis of the Extraocular Muscles
0.500 GeneticVariation disease BEFREE Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). 15223798 2004
Congenital Fibrosis of the Extraocular Muscles
0.500 GeneticVariation disease BEFREE The disorder was tested for linkage to two known autosomal dominant CFEOM loci on chromosome 12p11.2-q12 (CFEOM1) and chromosome 16q24 (CFEOM3) using microsatellite markers. 12181522 2002
Congenital Fibrosis of the Extraocular Muscles
0.500 Biomarker disease BEFREE This Turkish family segregates a variably expressed form of CFEOM that most closely resembles CFEOM3-linked CFEOM, but maps to the CFEOM1 locus. 10922204 2000
Congenital Fibrosis of the Extraocular Muscles
0.500 GeneticVariation disease BEFREE These data establish that CFEOM3 is a phenotypically variant and genotypically distinct form of CFEOM with linkage to chromosome 16qter. 10393037 1999
Congenital Fibrosis of the Extraocular Muscles
0.500 Biomarker disease HPO
Congenital Fibrosis of the Extraocular Muscles
0.500 Biomarker disease GENOMICS_ENGLAND