DISEASES

Disease-gene associations mined from literature

Literature associating TBX1 and chromosome 22q11.2 microduplication syndrome

TBX1 [ENSP00000331791]

T-box transcription factor TBX1; Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity); T-boxes

Synonyms:  TBX1,  TBX1p,  hTBX1,  D9ZGG0,  O43435 ...

Linkouts:  STRING  Pharos  UniProt  OMIM