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: rs368085185
rs368085185
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C3809651
Disease:
INFANTILE LIVER FAILURE SYNDROME 2 		A 0.700 CausalMutation CLINVAR NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. 26286438 2015