GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Acquired Camptodactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		0.010 GeneticVariation disease BEFREE By linkage mapping and exome sequencing in the most severe case, we identified novel heterozygous frameshift mutation NM_000168.5 (GLI3): c.3635delG (p.(Gly1212Alafs*18)) but did not detect any other possibly deleterious mutation that could explain the unusual features of camptodactyly, hypoplasia of third toe and wide space between first and second toes. 28315472 2017