rs104894378, TBX5

N. diseases: 6
Disease: Congenital Heart Defects ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
0.010 GeneticVariation BEFREE In contrast, missense mutations produced distinct phenotypes: Gly80Arg caused significant cardiac malformations but only minor skeletal abnormalities; and Arg237Gln and Arg237Trp caused extensive upper limb malformations but less significant cardiac abnormalities. 10077612 1999