NBAS, NBAS subunit of NRZ tethering complex, 51594

N. diseases: 123; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015967
Disease: Fever
Fever
0.020 Biomarker phenotype BEFREE We recommend sequencing NBAS in cases of recurrent hepatitis in infancy of unknown cause, especially in individuals with fever-associated hepatic dysfunction. 28611345 2018
CUI: C0015967
Disease: Fever
Fever
0.020 GeneticVariation phenotype BEFREE Exome sequencing in five unrelated individuals with fever-dependent RALF revealed biallelic mutations in NBAS. 26073778 2015