Disease-gene associations mined from literature

Literature associating TBX5 and Townes-Brocks syndrome

TBX5 [ENSP00000309913]

T-box transcription factor TBX5; DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation (PubMed:25725155, PubMed:25963046, PubMed:29174768, PubMed:26917986, PubMed:27035640, PubMed:8988164). Binds to the core DNA motif of NPPA promoter . ECO:0000269|PubMed:26917986, ECO:0000269|PubMed:26926761, ECO:0000269|PubMed:27035640, ECO:0000269|PubMed:29174768,

Synonyms:  TBX5,  TBX5p,  hTBX5,  Q99593,  Q99593p ...

Linkouts:  STRING  Pharos  UniProt  OMIM