NBAS, NBAS subunit of NRZ tethering complex, 51594

N. diseases: 123; N. variants: 22
Disease: Liver Failure, Acute ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369698072
rs369698072
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C0162557
Disease:
Liver Failure, Acute 		0.010 GeneticVariation BEFREE Absence of severe liver problems in this case and SOPH-affected Yakut subjects suggests that individuals carrying the NBAS missense mutation p.(Arg1914His) are less susceptible to developing ALF. 28031453 2017