SHOX, short stature homeobox, 6473

N. diseases: 138; N. variants: 16
Disease: Oestrogen deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0853662
Disease: Oestrogen deficiency
Oestrogen deficiency 		0.040 Biomarker disease BEFREE It was reported, recently, that SHOX overdosage and gonadal estrogen deficiency have led to tall stature due to continued growth. 19169482 2008
CUI: C0853662
Disease: Oestrogen deficiency
Oestrogen deficiency 		0.040 GeneticVariation disease BEFREE Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency. 12153748 2002
CUI: C0853662
Disease: Oestrogen deficiency
Oestrogen deficiency 		0.040 Biomarker disease BEFREE We suggest that triple gene dosage of SHOX and estrogen deficiency caused the unique overgrowth. 11174634 2001
CUI: C0853662
Disease: Oestrogen deficiency
Oestrogen deficiency 		0.040 Biomarker disease BEFREE Furthermore, the similarity in the growth pattern between this female and patients with estrogen resistance or aromatase deficiency implies that the association of an extra copy of SHOX with gonadal estrogen deficiency may represent the further clinical entity for tall stature resulting from continued growth in late teens or into adulthood. 10946905 2000