TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607164
rs267607164
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		0.800 GeneticVariation UNIPROT Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521 2010
dbSNP: rs267607164
rs267607164
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267607164
rs267607164
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		C 0.800 CausalMutation CLINVAR