RAC1, Rac family small GTPase 1, 5879

N. diseases: 415; N. variants: 20
Disease: Limb defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740404
Disease: Limb defects
Limb defects 		0.020 GeneticVariation group BEFREE This fetus is the third human case with limb defects and RAC1 deletion. 30193563 2019
CUI: C0740404
Disease: Limb defects
Limb defects 		0.020 Biomarker group BEFREE RAC1 plays an important role in the canonical Wnt pathway and conditional RAC1 knockout mice exhibit truncated-limb defects. 22995989 2013