TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607162
rs267607162
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		T 0.800 CausalMutation CLINVAR
dbSNP: rs267607163
rs267607163
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 		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
dbSNP: rs747480526
rs747480526
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs747480526
rs747480526
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs864321717
rs864321717
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		T 0.800 CausalMutation CLINVAR
dbSNP: rs878853256
rs878853256
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs878853257
rs878853257
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs878853258
rs878853258
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1057518686
rs1057518686
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057521924
rs1057521924
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1805009
rs1805009
Entrez Id: 4157;10381
Gene Symbol: MC1R;TUBB3
MC1R;TUBB3
CUI: C4016260
Disease:
SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs267607165
rs267607165
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587784505
rs587784505
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs587784505
rs587784505
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		A 0.700 CausalMutation CLINVAR
dbSNP: rs864321714
rs864321714
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		A 0.700 CausalMutation CLINVAR
dbSNP: rs864321715
rs864321715
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		A 0.700 CausalMutation CLINVAR
dbSNP: rs864321716
rs864321716
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs864321716
rs864321716
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C2748801
Disease:
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		A 0.700 CausalMutation CLINVAR
dbSNP: rs878853279
rs878853279
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		G 0.700 CausalMutation CLINVAR
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: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR β-Tubulin mutations that cause severe neuropathies disrupt axonal transport. 23503589 2013
dbSNP: rs267607165
rs267607165
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
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
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