TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Shprintzen syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939675
rs28939675
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease:
Shprintzen syndrome 		0.700 GeneticVariation UNIPROT Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. 17273972 2007
dbSNP: rs28939675
rs28939675
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease:
Shprintzen syndrome 		0.700 GeneticVariation UNIPROT Role of TBX1 in human del22q11.2 syndrome. 14585638 2003