Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
0.020 GeneticVariation disease BEFREE Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure. 17981816 2008
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
0.020 Biomarker disease BEFREE The case also highlights the importance of karyotyping for differentiating LWD and TS, especially in patients with findings such as premature ovarian failure or aortic abnormalities not associated with isolated SHOX haploinsufficiency. 11503163 2001