Disease-gene associations mined from literature

Literature associating HAND1 and hypoplastic left heart syndrome

HAND1 [ENSP00000231121]

Heart- and neural crest derivatives-expressed protein 1; Transcription factor that plays an essential role in both trophoblast-giant cells differentiation and in cardiac morphogenesis. In the adult, could be required for ongoing expression of cardiac-specific genes. Binds the DNA sequence 5'- NRTCTG-3' (non-canonical E-box) (By similarity); Basic helix-loop-helix proteins

Synonyms:  HAND1,  HAND1p,  hHAND1,  O96004,  BHLHA27 ...

Linkouts:  STRING  Pharos  UniProt  OMIM