DDRGK1, DDRGK domain containing 1, 65992

N. diseases: 49; N. variants: 2
Disease: Spondyloepimetaphyseal disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		0.110 Biomarker disease BEFREE Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. 28263186 2017
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		0.110 Biomarker disease HPO