GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018552
Disease: Hamartoma
Hamartoma
0.030 GeneticVariation disease BEFREE Most of the time, this hamartoma occurs in Pallister-Hall syndrome (PHS), due to heterozygous GLI3 mutations. 19449422 2009
CUI: C0018552
Disease: Hamartoma
Hamartoma
0.030 GeneticVariation disease LHGDN Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures. 18057317 2008
CUI: C0018552
Disease: Hamartoma
Hamartoma
0.030 Biomarker disease LHGDN Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus. 18252217 2008