rs104894378, TBX5

N. diseases: 6
Disease: AORTIC VALVE DISEASE 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
AORTIC VALVE DISEASE 2
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
0.700 CausalMutation CLINVAR Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. 20519243 2010
AORTIC VALVE DISEASE 2
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
0.700 CausalMutation CLINVAR Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. 12499378 2003
AORTIC VALVE DISEASE 2
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
0.700 CausalMutation CLINVAR Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. 12789647 2003
AORTIC VALVE DISEASE 2
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
0.700 CausalMutation CLINVAR Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. 11555635 2001
AORTIC VALVE DISEASE 2
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
0.700 CausalMutation CLINVAR Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. 10077612 1999
AORTIC VALVE DISEASE 2
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
0.700 CausalMutation CLINVAR Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. 8988165 1997