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: C0039075
Disease: Syndactyly
Syndactyly
0.040 GeneticVariation disease BEFREE A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex. 25267529 2014
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.040 GeneticVariation disease BEFREE We found a non-sense mutation in the GLI3 gene in the family with foot PPD-IV accompanied with hand syndactyly of the third and fourth fingers, but no mutations were detected in the GLI3 gene in the four other cases with PPD-I alone. 15811011 2005
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.040 GeneticVariation disease LHGDN Gene symbol: GLI3. Disease: Pallister-Hall syndrome. 12575661 2003
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.040 GeneticVariation disease BEFREE Their phenotype varied from either PAP-A, or PAP-B to PAP-A/B with or without the co-occurence of partial cutaneous syndactyly. 12734547 2003