TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Disease: Leukodystrophy, Hypomyelinating, 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041022
rs886041022
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6 		C 0.700 CausalMutation CLINVAR TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum. 25168210 2015