GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Kallmann Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.010 GeneticVariation disease BEFREE These findings provide new insights into GnRH-1 and OECs development and demonstrate that human <i>GLI3</i> mutations contribute to KS etiology.<b>Significance statement.</b> The transcription factor Gli3 is necessary for correct development of the olfactory system. 31767679 2020