rs267607165, TUBB3

N. diseases: 18
Disease: Congenital Fibrosis of the Extraocular Muscles ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Fibrosis of the Extraocular Muscles
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
0.010 GeneticVariation 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