SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029453
Disease: Osteopenia
Osteopenia
0.110 GeneticVariation disease BEFREE The present study assessed prevalence and determinants of osteopenia and osteoporosis in patients with SDS and disease-causing mutations in the SBDS gene. 17920346 2007
CUI: C0029453
Disease: Osteopenia
Osteopenia
0.110 Biomarker disease HPO