Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.010 GeneticVariation BEFREE Mutations in TUBB4A, encoding the tubulin isoform tubulin beta class IVA (Tubb4a), result in the symptom complex of hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC). 28973395

2017