Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		0.060 GeneticVariation BEFREE TBX5 is the gene mutated in Holt-Oram syndrome, an autosomal dominant disorder with complex heart and limb deformities. 25623069

2015
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		0.060 GeneticVariation BEFREE Mutations in the human TBX5 gene cause Holt-Oram syndrome (HOS), a disorder characterized by heart and upper limb deformities. 15221798

2004
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		0.060 GeneticVariation BEFREE Seven missense mutations in TBX5 have been identified in patients with Holt-Oram syndrome characterized by congenital heart defects and upper limb abnormalities. 12499378

2003
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		0.060 GeneticVariation BEFREE Mutations that result in haploinsufficiency of TBX5 are purported to cause cardiac and limb defects of similar severity, whereas missense mutations, depending on their location in the T box, are thought to cause either more severe heart or more severe limb abnormalities. 12789647

2003
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		0.060 GeneticVariation BEFREE In the autosomal dominant Holt-Oram syndrome, both atrial and ventricular septal defects are inherited in association with limb deformity as a result of mutations in the gene encoding the TBX5 transcription factor. 11376442

2000
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		0.060 GeneticVariation BEFREE Mutations in TBX5, a related and linked gene, cause anterior limb abnormalities in Holt-Oram syndrome. 9207801

1997