AGO2, argonaute RISC catalytic component 2, 27161

N. diseases: 186; N. variants: 11
Disease: Greig cephalopolysyndactyly syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		0.010 GeneticVariation disease BEFREE In this study, we investigated 16 unrelated probands with the clinical diagnosis of GCPS/PPD-IV and found GLI3 mutations in 12 (75%) of them (nine familial and three sporadic cases). 22903559 2012