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: rs770446752
rs770446752
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3809651
Disease:
INFANTILE LIVER FAILURE SYNDROME 2 		T 0.700 CausalMutation CLINVAR Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS. 28576691 2017