GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Acrocephalopolysyndactyly type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275078
Disease: Acrocephalopolysyndactyly type 2
Acrocephalopolysyndactyly type 2 		0.010 GeneticVariation disease BEFREE These observations confirm and extend a recently proposed association of intragenic GLI3 mutations with metopic synostosis; moreover, the three individuals with complete deletion of GLI3 were previously considered to have Carpenter syndrome, highlighting an important source of diagnostic confusion. 21326280 2011