TOP3A, DNA topoisomerase III alpha, 7156

N. diseases: 52; N. variants: 9
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 GeneticVariation disease BEFREE In summary, our findings establish TOP3A mutations as an additional cause of prenatal-onset short stature with increased cytogenetic SCEs and implicate the decatenation activity of the BTRR complex in their pathogenesis. 30057030 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO