Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.010 GeneticVariation disease BEFREE Molecular genetic analysis revealed a 747 CGA (Arg)-TGA (End) mutation in exon 22 of the PHEX gene, confirming XLH. 14514346 2003