NBAS, NBAS subunit of NRZ tethering complex, 51594

N. diseases: 123; N. variants: 22
Disease: INFANTILE LIVER FAILURE SYNDROME 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140841721
rs140841721
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3809651
Disease:
INFANTILE LIVER FAILURE SYNDROME 2 		0.700 GeneticVariation UNIPROT Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. 26073778 2015