Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GermlineCausalMutation ORPHANET The diagnosis of UMS was confirmed on mutation analysis of TBX3. 19938096

2009
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GermlineCausalMutation ORPHANET Our findings indicate that ulnar-mammary syndrome shows a wide range of phenotypes even within the same family and provide further evidence that haploinsufficiency of TBX3 is the disease-causing mechanism. 12668170

2003
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GermlineCausalMutation ORPHANET However, the 3' terminus of the open reading frame (ORF) of TBX3 was not identified, and mutations were detected in only two families with UMS. 10330342

1999