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: rs886041010
rs886041010
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6 		T 0.700 CausalMutation CLINVAR TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. 26643067 2016
dbSNP: rs886041010
rs886041010
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6 		A 0.700 CausalMutation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014