TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
Disease: Klinefelter Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.010 GeneticVariation disease BEFREE A heterozygous de novo c.1228G>A mutation (E410K) in the TUBB3 gene encoding the neuronal-specific β-tubulin isotype 3 (TUBB3) causes the TUBB3 E410K syndrome characterized by congenital fibrosis of the extraocular muscles (CFEOM), facial weakness, intellectual and social disabilities, and Kallmann syndrome (anosmia with hypogonadotropic hypogonadism). 25559402 2015