TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Methylmalonic acidemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.010 GeneticVariation phenotype BEFREE The mutation R403stop was found in an individual with mut(0) methylmalonic aciduria (MMA) which resulted from a single base change of C→T in exon 6 of the methylmalonyl-CoA mutase gene (producing a TGA stop codon). 23024777 2012