GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Polysyndactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265553
Disease: Polysyndactyly
Polysyndactyly 		0.310 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2015 revision. 26394607 2015
CUI: C0265553
Disease: Polysyndactyly
Polysyndactyly 		0.310 GeneticVariation disease BEFREE We report on the novel association of trigonocephaly and polysyndactyly in two unrelated patients due to mutations within the last third (exon 14) and first third (exon 6) of the GLI3 gene, respectively. 20583172 2010