TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.100 GeneticVariation disease CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014