TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Hyperlipoproteinemia Type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		0.010 GeneticVariation disease BEFREE She was homozygous for LPL deficiency due to a nonsense mutation (TGG1401 --> TGA/Trp382 --> Stop) in exon 8 of the LPL gene, which resulted in the absence of LPL activity and immunoreactive LPL mass. 9627147 1998