Gene: TBX5 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 CausalMutation disease CLINVAR The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects. 25931334 2015
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 CausalMutation disease CLINVAR Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease. 25500235 2014
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 CausalMutation disease CLINVAR Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. 20519243 2010
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 CausalMutation disease CLINVAR Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome. 21637475 2010
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 CausalMutation disease CLINVAR Novel TBX5 mutations in patients with Holt-Oram syndrome. 17534187 2007
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 CausalMutation disease CLINVAR Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. 16917909 2006
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 GeneticVariation disease CLINVAR Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. 16917909 2006
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 CausalMutation disease CLINVAR Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart. 16380715 2006
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 CausalMutation disease CLINVAR TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. 16183809 2005
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 GeneticVariation disease CLINVAR TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. 16183809 2005
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 CausalMutation disease CLINVAR Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome. 15710732 2005
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 CausalMutation disease CLINVAR Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. 12499378 2003
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 CausalMutation disease CLINVAR Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. 12789647 2003
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 CausalMutation disease CLINVAR Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. 11555635 2001
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 CausalMutation disease CLINVAR Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. 10077612 1999
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 CausalMutation disease CLINVAR Helicobacter pylori infection and autoimmune processes: an emerging field of study. 10077762 1998
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 CausalMutation disease CLINVAR Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. 8988164 1997
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 CausalMutation disease CLINVAR Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. 8988165 1997