TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853256
rs878853256
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.800 GeneticVariation UNIPROT Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227 2010
dbSNP: rs878853257
rs878853257
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.800 GeneticVariation UNIPROT Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227 2010
dbSNP: rs878853258
rs878853258
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.800 GeneticVariation UNIPROT Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227 2010
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: 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: rs1555625363
rs1555625363
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646 2018
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: 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: 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