SHOX, short stature homeobox, 6473

N. diseases: 138; N. variants: 16
Disease: Patellar aplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		0.110 Biomarker phenotype BEFREE The LMX1B and the SHOX genes were also evaluated considering the absent patellae and short stature, respectively, and were found normal as well. 11807867 2002
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		0.110 Biomarker phenotype HPO