Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.020 GeneticVariation BEFREE A regulation that occurs mainly in the mesomelic segments, a region where SHOX is known to be strongly expressed, offers a possible explanation for the phenotypes seen in patients with FGFR3 (e.g. achondroplasia) and SHOX defects (e.g.Léri-Weill dyschondrosteosis). 22946287

2012
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.020 AlteredExpression BEFREE The phenotypes of combined LWD and achondroplasia or hypochondroplasia appeared to be less than additive, suggesting that SHOX and FGFR3 act on overlapping pathways of bone growth and development. 12476453

2003