TUBA1A, tubulin alpha 1a, 7846

N. diseases: 82; N. variants: 46
Disease: Septo-Optic Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		0.010 GeneticVariation disease BEFREE The authors report a case of a premature male neonate born at 25.3 weeks gestational age weighing 605 grams with septo-optic dysplasia (SOD) and a heterozygous mutation in TUBA1A c.715A>C, a critical gene for microtubules, who developed asymmetric and aggressive posterior retinopathy of prematurity (ROP). 30114309 2018