RPL13, ribosomal protein L13, 6137

N. diseases: 20; N. variants: 0
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 		0.010 GeneticVariation disease BEFREE RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature. 31630789 2019