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: C4706613
Disease: SHOX-related short stature
SHOX-related short stature
0.010 AlteredExpression disease BEFREE The SHOX expression pattern in the limb and first and second pharyngeal arches not only explains SHOX -related short stature phenotypes, but also for the first time provides evidence for the involvement of this gene in the development of additional Turner stigmata. 10749976 2000