TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Situs ambiguus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.010 GeneticVariation disease BEFREE Three potentially disease-related missense mutations were detected: c.49G > T (Gly17Cys) in a female with isolated DORV, c.98C > T (Ala33Val) in a male with isolated d-TGA, and c.841C > T (His281Tyr) in a female with sporadic heterotaxy. 23427188 2013