TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 GeneticVariation disease BEFREE Mutations in the TUBB5 are mainly responsible for microcephaly but the clinical spectrum is wide, from patients with severe developmental delay, and the presence of different brain malformations, to patients with only slightly cognitive impairment and normal motor development. 30738969 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 GeneticVariation disease BEFREE We have previously reported that mutations in TUBB5 cause microcephaly that is accompanied by severe intellectual impairment and motor delay. 28130172 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 Biomarker disease BEFREE Our results provide insight into the functional repertoire of the tubulin gene family, specifically implicating TUBB5 in embryonic neurogenesis and microcephaly. 23246003 2012
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 Biomarker disease HPO