Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs483352809
rs483352809
TUBB4A
T 0.800 CausalMutation CLINVAR Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. 24850488

2014
dbSNP: rs483352809
rs483352809
TUBB4A
T 0.800 CausalMutation CLINVAR Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). 24706558

2014
dbSNP: rs483352809
rs483352809
TUBB4A
T 0.800 CausalMutation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942

2014
dbSNP: rs483352809
rs483352809
TUBB4A
T 0.800 CausalMutation CLINVAR A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. 23582646

2013
dbSNP: rs483352809
rs483352809
TUBB4A
0.800 GeneticVariation UNIPROT A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. 23582646

2013