Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation UNIPROT Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. 17273972

2007
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation UNIPROT Role of TBX1 in human del22q11.2 syndrome. 14585638

2003