TUBB, tubulin beta class I, 203068

N. diseases: 96; N. variants: 7
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777355
rs587777355
Entrez Id: 203068
Gene Symbol: TUBB
TUBB
CUI: C4014283
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 		0.800 GeneticVariation UNIPROT Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. 23246003 2012
dbSNP: rs587777356
rs587777356
Entrez Id: 203068
Gene Symbol: TUBB
TUBB
CUI: C4014283
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 		0.800 GeneticVariation UNIPROT Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. 23246003 2012
dbSNP: rs587777357
rs587777357
Entrez Id: 203068
Gene Symbol: TUBB
TUBB
CUI: C4014283
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 		0.800 GeneticVariation UNIPROT Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. 23246003 2012
dbSNP: rs587777355
rs587777355
Entrez Id: 203068
Gene Symbol: TUBB
TUBB
CUI: C4014283
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 		G 0.800 CausalMutation CLINVAR
dbSNP: rs587777356
rs587777356
Entrez Id: 203068
Gene Symbol: TUBB
TUBB
CUI: C4014283
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777357
rs587777357
Entrez Id: 203068
Gene Symbol: TUBB
TUBB
CUI: C4014283
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 		A 0.800 CausalMutation CLINVAR
dbSNP: rs878853162
rs878853162
Entrez Id: 203068
Gene Symbol: TUBB
TUBB
CUI: C4014283
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 		T 0.700 CausalMutation CLINVAR