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: C0033377
Disease: Ptosis
Ptosis 		0.110 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: C0033377
Disease: Ptosis
Ptosis 		0.110 Biomarker HPO