Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.300 Biomarker group GENOMICS_ENGLAND Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. 27789416 2017