NBAS, NBAS subunit of NRZ tethering complex, 51594

N. diseases: 123; N. variants: 22
Disease: Optic Atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.130 GeneticVariation disease BEFREE Foveal hypoplasia in short stature with optic atrophy and Pelger-Huët anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation. 28115293 2017
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.130 GeneticVariation disease BEFREE Homozygous missense NBAS variants cause SOPH syndrome (short stature; optic atrophy; Pelger-Huet anomaly), the same missense variant was found in our patients on one allele and a nonsense variant in the other allele. 27789416 2017
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.130 Biomarker disease BEFREE These findings suggest that function of NBAS may associate with the pathogenesis of short stature syndrome as well as optic atrophy and Pelger-Huët anomaly. 20577004 2010
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.130 Biomarker disease HPO