Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
0.120 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
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
0.120 Biomarker disease BEFREE Subjects with CFEOM3 frequently had asymmetrical blepharoptosis, limited vertical duction, variable ophthalmoplegia, exotropia, and paradoxical abduction in infraduction. 20393110 2010
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
0.120 Biomarker disease HPO