DISEASES

Disease-gene associations mined from literature

Literature associating GLI1 and chondroma

GLI1 [ENSP00000228682]

Zinc finger protein GLI1; Acts as a transcriptional activator (PubMed:19706761, PubMed:10806483, PubMed:19878745, PubMed:24311597, PubMed:24217340). Binds to the DNA consensus sequence 5'-GACCACCCA-3' (PubMed:2105456, PubMed:8378770, PubMed:24217340). Regulates the transcription of specific genes during normal development . Plays 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 . ECO:0000269|PubMed:11238441, ECO:0000269|PubMed:19706761, ECO:0000269|PubMed:19878745, ECO:0000269|PubMed:2105456, ECO:0000269|PubMed:24217340, ECO:0000269|PubMed:24311597,; Belongs to the GLI C2H2-type zinc-finger protein family.

Synonyms:  GLI1,  GLI1p,  hGLI1,  E9PIB9,  E9PQQ1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM