HMGB3, high mobility group box 3, 3149

N. diseases: 71; N. variants: 1
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 this family, microphthalmia, microcephaly, intellectual disability, and short stature are associated with a mutation on the X chromosome in the HMGB3 gene. 24993872 2014
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO