SHOX, short stature homeobox, 6473

N. diseases: 138; N. variants: 16
Disease: Klinefelter's syndrome - male with more than two X chromosomes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		0.020 Biomarker disease BEFREE Examples are the SHOX genes, identified as likely causing the tall stature regularly seen in KS. 20228051 2010
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		0.020 GeneticVariation disease BEFREE Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes. 14752208 2004