SHOX, short stature homeobox, 6473

N. diseases: 138; N. variants: 16
Disease: Short forearm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551978
Disease: Short forearm
Short forearm 		0.010 GeneticVariation phenotype BEFREE Madelung deformity or co-occurrence of disproportionate short stature, short forearm and muscular hypertrophy had represented the most potent markers to determine the likelihood of SHOX gene defect detection. 27708272 2017