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: C0549306
Disease: Mesomelia
Mesomelia
0.110 Biomarker disease BEFREE The results suggest that, in individuals with SHOX haploinsufficiency and normal ovarian function, auxological abnormalities related to mesomelia are evident from childhood and worsen further during puberty because of the skeletal maturing effects of ovarian estrogens. 14514349 2003
CUI: C0549306
Disease: Mesomelia
Mesomelia
0.110 Biomarker disease HPO