DLX3, distal-less homeobox 3, 1747

N. diseases: 67; N. variants: 5
Disease: Osteosclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		0.120 GeneticVariation disease BEFREE Here we show that the DLX3 mutation (c.533 A>G; Q178R) attenuates osteogenic potential and senescence of bone mesenchymal stem cells (BMSCs) isolated from a TDO patient, providing a molecular explanation for abnormal increased bone density. 27924851 2016
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		0.120 GeneticVariation disease BEFREE The markedly increased bone density in individuals having the DLX3, 4 bp DEL,NT3198 mutation shows that this alteration affects both endochondral and intramembranous bone formation and suggests that the DLX3 gene is important in bone formation and/or homeostasis of the appendicular skeleton. 15454107 2004
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		0.120 Biomarker disease HPO