DISEASES

Disease-gene associations mined from literature

Literature associating GLI1 and Pallister-Hall syndrome

GLI1 [ENSP00000228682]

Glioma-associated oncogene; Acts as a transcriptional activator. Binds to the DNA consensus sequence 5'- GACCACCCA-3'. May regulate the transcription of specific genes during normal development. May play a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Mediates SHH signaling. Plays a role in cell proliferation and differentiation via its role in SHH signaling (Probable); Zinc fingers C2H2-type

Synonyms:  GLI1,  GLI1p,  hGLI1,  B1Q2M2,  E9PIB9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM