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: rs368196005
rs368196005
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3809651
Disease:
INFANTILE LIVER FAILURE SYNDROME 2 		0.810 GeneticVariation BEFREE Fibroblasts of a patient with Infantile Liver Failure Syndrome 2 (OMIM #616483) due to a homozygous missense variant in the neuroblastoma amplified sequence gene (NBAS; c.[2708T>G]; c.[2708T>G]/p. 30772683 2019
dbSNP: rs368196005
rs368196005
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3809651
Disease:
INFANTILE LIVER FAILURE SYNDROME 2 		0.810 GeneticVariation UNIPROT Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. 26073778 2015
dbSNP: rs368196005
rs368196005
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3809651
Disease:
INFANTILE LIVER FAILURE SYNDROME 2 		C 0.810 CausalMutation CLINVAR