TUBB2A, tubulin beta 2A class IIa, 7280

N. diseases: 37; N. variants: 6
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037663
rs886037663
Entrez Id: 7280
Gene Symbol: TUBB2A
TUBB2A
CUI: C3810407
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 		0.800 GeneticVariation UNIPROT De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. 24702957 2014
dbSNP: rs886037663
rs886037663
Entrez Id: 7280
Gene Symbol: TUBB2A
TUBB2A
CUI: C3810407
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 		C 0.800 CausalMutation CLINVAR