PRRX1, paired related homeobox 1, 5396

N. diseases: 134; N. variants: 11
Disease: Deformity of bone ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410719
Disease: Deformity of bone
Deformity of bone 		0.010 GeneticVariation group BEFREE Previously, we generated limb bud mesenchyme-specific Cdc42 inactivated mice (Cdc42 conditional knockout mice; Cdc42<sup> fl/fl</sup>; Prx1-Cre), which showed short limbs and cranial bone deformities, though the mechanism related to the cranium phenotype was unclear. 30853186 2019