TUBB, tubulin beta class I, 203068

N. diseases: 96; N. variants: 7
Disease: Congenital anomaly of brain ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.020 GeneticVariation group BEFREE Mutations in the C-terminal of TUBB gene have been associated to microcephaly and structural brain malformation, in the absence of CSC-KT features. 29427453 2018
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.020 Biomarker group BEFREE Mutations in seven genes encoding alpha-tubulin (TUBA1A), beta-tubulin (TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBB) and gamma-tubulin (TUBG1) isoforms have been associated with a wide and overlapping range of brain malformations or "Tubulinopathies". 30016746 2018