NBAS, NBAS subunit of NRZ tethering complex, 51594

N. diseases: 123; N. variants: 22
Disease: Increased susceptibility to fractures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		0.300 Biomarker phenotype GENOMICS_ENGLAND These findings provide proof-of-concept that NBAS mutations have mechanistic effects in bone, and that NBAS variants are a novel cause of bone fragility, which is distinguishable from 'Classical' OI. 27789416 2017