PRRX1, paired related homeobox 1, 5396

N. diseases: 134; N. variants: 11
Disease: Geleophysic dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.010 Biomarker disease BEFREE Consistent with strong tendon expression, Adamtsl2 conditional deletion in limb mesenchyme using Prx1-Cre led to tendon anomalies, albeit with normal collagen fibrils, and distal limb shortening, providing a mouse model for geleophysic dysplasia. 30738849 2019