Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
0.420 GeneticVariation phenotype BEFREE Patient 2: NBAS c.5741G>A p.(Arg1914His); c.2032C>T p.(Gln678*) in a 5-year old boy with similar presenting features, bone fragility, mild developmental delay, abnormal liver function tests and immunodeficiency. 27789416 2017
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
0.420 Biomarker phenotype 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
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
0.420 GeneticVariation phenotype BEFREE Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay. 26578240 2015
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
0.420 CausalMutation phenotype CLINVAR NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. 26286438 2015