SHOX, short stature homeobox, 6473

N. diseases: 138; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus
0.110 Biomarker disease BEFREE Although mean height standard deviation score (SDS) was not different between participants of short stature with or without identified SHOX gene defects (-2.6 vs -2.6), detailed examination revealed that certain bone deformities and dysmorphic signs, such as short forearm and lower leg, cubitus valgus, Madelung deformity, high-arched palate and muscular hypertrophy, differed markedly between participants with or without SHOX gene defects (p<0.001). 17182655 2007
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus
0.110 Biomarker disease HPO