VSX1, visual system homeobox 1, 30813

N. diseases: 95; N. variants: 18
Disease: Syndactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.010 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