Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.420 Biomarker GENOMICS_ENGLAND Patient 1: NBAS c.5741G>A p.(Arg1914His); c.3010C>T p.(Arg1004*) in a 10-year old boy with significant short stature, bone fragility requiring treatment with bisphosphonates, developmental delay and immunodeficiency. 27789416

2017