TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. 26639658 2016
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. 25559402 2015
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR A family with axonal sensorimotor polyneuropathy with TUBB3 mutation. 25482575 2015
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. 25059107 2014
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. 24612975 2014
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. 23378218 2013
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR β-Tubulin mutations that cause severe neuropathies disrupt axonal transport. 23503589 2013
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR [The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis]. 24257358 2013
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227 2010
dbSNP: rs1555625571
rs1555625571
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 20074521 2010