NBAS, NBAS subunit of NRZ tethering complex, 51594

N. diseases: 123; N. variants: 22
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.140 GeneticVariation disease BEFREE Previously, biallelic mutations in NBAS have been reported to be associated with a syndrome comprising short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) specifically occurring in the Yakut population. 28031453 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.140 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: C0013336
Disease: Dwarfism
Dwarfism 		0.140 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: C0013336
Disease: Dwarfism
Dwarfism 		0.140 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: C0013336
Disease: Dwarfism
Dwarfism 		0.140 Biomarker disease HPO