GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Aarskog syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.020 GeneticVariation disease BEFREE In two GCPS cases, both of which did not exhibit obvious cytogenetic rearrangements, point mutations were identified in different domains of the protein, showing for the first time that Greig syndrome can be caused by GLI3 point mutations. 9302279 1997
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.020 GeneticVariation disease BEFREE GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. 1650914 1991