Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.120 GeneticVariation 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
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.120 Biomarker 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
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.120 Biomarker HPO